Glycogen storage disease

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Glycogen storage disease
Other namesGlycogenosis; dextrinosis
Glycogen storage disorder (PAS with diastase).jpg
Glycogen storage disease in hepatocytes
Specialty Neuromuscular medicine; hepatology; medical genetics
Symptoms Biopsy shows either abnormal accumulation or deficit of glycogen
CausesGenetic

A glycogen storage disease (GSD, also glycogenosis and dextrinosis) is a metabolic disorder caused by a deficiency of an enzyme or transport protein affecting glycogen synthesis, glycogen breakdown, or glucose breakdown, typically in muscles and/or liver cells. [1]

Contents

GSD has two classes of cause: genetic and environmental. Genetic GSD is caused by any inborn error of carbohydrate metabolism (genetically defective enzymes or transport proteins) involved in these processes. In livestock, environmental GSD is caused by intoxication with the alkaloid castanospermine. [2]

However, not every inborn error of carbohydrate metabolism has been assigned a GSD number, even if it is known to affect the muscles or liver. For example, phosphoglycerate kinase deficiency (gene PGK1) has a myopathic form.

Also, Fanconi-Bickel syndrome (gene SLC2A2) and Danon disease (gene LAMP2) were declassed as GSDs due to being defects of transport proteins rather than enzymes; however, GSD-1 subtypes b, c, and d are due to defects of transport proteins (genes SLC37A4, SLC17A3) yet are still considered GSDs.

Phosphoglucomutase deficiency (gene PGM1) was declassed as a GSD due to it also affecting the formation of N-glycans; however, as it affects both glycogenolysis and glycosylation, it has been suggested that it should re-designated as GSD-XIV. [3]

(See inborn errors of carbohydrate metabolism for a full list of inherited diseases that affect glycogen synthesis, glycogen breakdown, or glucose breakdown.)

Types

Type
(Eponym) 		Enzyme deficiency
(Gene [4] ) 		Incidence (births) Hypo-
glycemia? 		Hepato-
megaly? 		Hyper-
lipidemia? 		Muscle symptoms Development/ prognosis Other symptoms
GSD 0

(Lewis' disease) [5]

Glycogen synthase
(Muscle GYS1 / Liver GYS2) 		1 in 20,000–25,000 [6] Liver 0a: Yes

Muscle 0b: No

No No (Muscle 0b) Glycogen deficiency in muscle fibres. Type I muscle fibre predominance. Exercise-induced, muscle fatigue, myalgia, fainting. [7] [8] Occasional muscle cramping [ citation needed ](Liver 0a) Growth failure in some cases. [9]

(Muscle 0b) Risk of sudden death in childhood due to cardiac arrest. [7]

(Liver 0a) Epilepsy [9]

(Muscle 0b) Rarely epilepsy, tonic-clonic seizures. [7] Arrhythmia, long QT syndrome. [8]

GSD I / GSD 1
(von Gierke's disease) 		Glucose-6-phosphatase / Glucose-6-phosphate translocase
(G6PC / SLC37A4 /SLC17A3) 		Yes Yes Yes None Growth failure Lactic acidosis, hyperuricemia
GSD II / GSD 2
(Pompe disease, formerly GSD-IIa)
Danon disease (formerly GSD-IIb) 		Acid alpha-glucosidase

(GAA)

Lysosome-associated membrane protein 2
(LAMP2) 		No Yes No Muscle weakness, exercise intolerance, abnormal lysosomal glycogen accumulation in muscle biopsy. Late-onset Pompe may have a pseudoathletic appearance of hypertrophic calf muscles. [14]

The symptoms of both Pompe and Danon diseases are very similar due to a defect in lysosomes. However, in Danon disease, some show abnormal glycogen accumulation, but not all. [15]

Progressive proximal skeletal muscle weakness with varied timeline to threshold of functional limitation (early childhood to adulthood). Approximately 15% of the Pompe population is classified as infantile Pompe which is typically deadly within the first year if untreated. Heart failure (infantile), respiratory difficulty (due to muscle weakness)
GSD III / GSD 3
(Cori's disease or Forbes' disease) 		Glycogen debranching enzyme
(AGL Archived 2017-12-04 at the Wayback Machine ) 		Yes Yes Yes Myopathy. May have a pseudoathletic appearance of hypertrophic muscles. [16] Failure to thrive [17]

myogenic hyperuricemia [18]

GSD IV / GSD 4
(Andersen's disease) 		Glycogen branching enzyme
(GBE1) 		No Yes,
also
cirrhosis 		No Myopathy and dilated cardiomyopathy Failure to thrive, death at age ~5 years
GSD V / GSD 5
(McArdle's disease) 		Muscle glycogen phosphorylase
(PYGM) 		No No No Exercise-induced muscle fatigue and cramps. Rhabdomyolysis possible. May have a pseudoathletic appearance of hypertrophic calf muscles. [21] Renal failure by myoglobinuria, second wind phenomenon, inappropriate rapid heart rate (sinus tachycardia) response to exercise, myogenic hyperuricemia [18]
GSD VI / GSD 6
(Hers' disease) 		Liver glycogen phosphorylase
(PYGL) 		Yes Yes Yes [23] None initially benign, developmental delay follows.
GSD VII / GSD 7
(Tarui's disease) 		Muscle phosphofructokinase
(PFKM) 		No No No Exercise-induced muscle cramps and weakness developmental delay In some haemolytic anaemia,

myogenic hyperuricemia [18]

GSD IX / GSD 9 Phosphorylase kinase
(PHKA2 / PHKB / PHKG2 / PHKA1) 		 ? Yes Yes Yes IXd Exercise-induced muscle cramps, stiffness, weakness (fatigue), and pain. [25] Liver type: Delayed motor development, Developmental delay
GSD X / GSD 10 Muscle Phosphoglycerate mutase(PGAM2) ?  ?  ?  ? Exercise-induced muscle cramps and weakness [26] Myoglobinuria [27]
GSD XI / GSD 11 Muscle lactate dehydrogenase
(LDHA) 		 ?  ?  ?  ?

Exercise-induced muscle cramps, stiffness, pain. [28]

Fanconi-Bickel syndrome
formerly GSD XI / GSD 11, no longer considered a GSD 		Glucose transporter
(GLUT2) 		 ? Yes

Yes

No None
GSD XII / GSD 12
(Aldolase A deficiency)		 Aldolase A
(ALDOA) 		 ? No In some No Exercise intolerance, cramps. In some Rhabdomyolysis. Hemolytic anemia and other symptoms
GSD XIII / GSD 13 β-enolase
(ENO3) 		 ? No  ? No Exercise intolerance, cramps Increasing intensity of myalgias over decades [29] Serum CK: Episodic elevations; Reduced with rest [29]
CDG1T (formally GSD XIV / GSD 14) Phosphoglucomutase-1(PGM1)?Episodic?NoTwo forms: exclusively myopathic and multi-system (including muscles). [30]

Myopathy (including exercise-related fatigue, exercise intolerance, muscle weakness). Muscle biopsy shows glycogen accumulation. [31]

Short stature, some have developmental delay, and rarely delayed puberty. [31] Highly variable phenotype and severity. Commonly elevated serum CK, abnormal serum transferrin (loss of complete N-glycans), short stature, cleft palate, bifid uvula, and hepatopathy. [31]

Second Wind phenomenon in some [32] but not all [3]

GSD XV / GSD 15 Glycogenin-1
(GYG1) 		Rare [33] No No No Muscle atrophy, exercise intolerance, muscle biopsy shows abnormal glycogen depletion and marked proliferation of slow-twitch (type 1/oxidative) muscle fibres and mitochondrial proliferation. Slowly progressive weakness over decades Arrhythmia, biopsy of heart showed abnormal glycogen deposits (different from polyglucosan bodies) in cardiomyocytes. [34]

Diagnosis

Micrograph of glycogen storage disease with histologic features consistent with Cori disease. Liver biopsy. H&E stain. Glycogen storage disease in liver - high mag.jpg
Micrograph of glycogen storage disease with histologic features consistent with Cori disease. Liver biopsy. H&E stain.

Methods to diagnose glycogen storage diseases include history and physical examination for associated symptoms, blood tests for associated metabolic disturbances, and genetic testing for suspected mutations. [16] [45] It may also include a non-ischemic forearm test, exercise stress test, or 12-minute walk test (12MWT). [45] Advancements in genetic testing are slowly diminishing the need for biopsy; however, in the event of a VUS and inconclusive exercise tests, a biopsy would then be necessary to confirm diagnosis. [45]

Differential diagnosis

Muscle

Glycogen storage diseases that involve skeletal muscle typically have exercise-induced (dynamic) symptoms, such as premature muscle fatigue, rather than fixed weakness (static) symptoms. [46] Differential diagnoses for glycogen storage diseases that involve fixed muscle weakness, particularly of the proximal muscles, would be an inflammatory myopathy or a limb-girdle muscular dystrophy. [46]

For those with exercise intolerance and/or proximal muscle weakness, the endocrinopathies should be considered. [47] [48] [49] The timing of the symptoms of exercise intolerance, such as muscle fatigue and cramping, is important in order to help distinguish it from other metabolic myopathies such as fatty acid metabolism disorders. [50]

Problems originating within the circulatory system, rather than the muscle itself, can produce exercise-induced muscle fatigue, pain and cramping that alleviates with rest, resulting from inadequate blood flow (ischemia) to the muscles. Ischemia that often produces symptoms in the leg muscles includes intermittent claudication, popliteal artery entrapment syndrome, and chronic venous insufficiency.

Diseases disrupting the neuromuscular junction can cause abnormal muscle fatigue, such as myasthenia gravis, an autoimmune disease. [51] Similar, are Lambert–Eaton myasthenic syndrome (autoimmune) and the congenital myasthenic syndromes (genetic).

Diseases can disrupt glycogen metabolism secondary to the primary disease. Abnormal thyroid function—hypo- and hyperthyroidism—can manifest as myopathy with symptoms of exercise-induced muscle fatigue, cramping, muscle pain and may include proximal weakness or muscle hypertrophy (particularly of the calves). [52] [48] Hypothyroidism up-regulates glycogen synthesis and down-regulates glycogenolysis and glycolysis; conversely, hyperthyroidism does the reverse, up-regulating glycogenolysis and glycolysis while down-regulating glycogen synthesis. [53] [54] [55] [48] [56]

Prolonged hypo- and hyperthyroid myopathy leads to atrophy of type II (fast-twitch/glycolytic) muscle fibres, and a predominance of type I (slow-twitch/oxidative) muscle fibres. [54] [48] [49] Muscle biopsy shows abnormal muscle glycogen: high accumulation in hypothyroidism and low accumulation in hyperthyroidism. [56] [53] [54] Hypothyroid myopathy includes Kocher-Debre-Semelaigne syndrome (childhood-onset), Hoffman syndrome (adult-onset), myasthenic syndrome, and atrophic form. [56]

In patients with increased growth hormone, muscle biopsy includes, among other features, excess glycogen deposition. [57]

EPG5-related Vici syndrome is a multisystem disorder, a congenital disorder of autophagy, with muscle biopsy showing excess glycogen accumulation, among other myopathic features. [58]

It is interesting to note, in comparison to hypothyroid myopathy, that McArdle disease (GSD-V), which is by far the most commonly diagnosed of the muscle GSDs and therefore the most studied, [59] [45] [60] has as its second highest comorbidity endocrine disease (chiefly hypothyroidism) [61] [45] and that some patients with McArdle disease also have hypertrophy of the calf muscles. [21] Late-onset Pompe disease (GSD-II) also has calf hypertrophy and hypothyroidism as comorbidities. [14] [62] [63]

Poor diet and malabsorption diseases (such as celiac disease) may lead to malnutrition of essential vitamins necessary for glycogen metabolism within the muscle cells. Malnutrition typically presents with systemic symptoms, but in rare instances can be limited to myopathy. [64] Vitamin D deficiency myopathy (also known as osteomalic myopathy due to the interplay between vitamin D and calcium) results in muscle weakness, predominantly of the proximal muscles; with muscle biopsy showing abnormal glycogen accumulation, atrophy of type II (fast-twitch/glycolytic) muscle fibres, and diminished calcium uptake by the sarcoplasmic reticulum (needed for muscle contraction). [65] [66] [67] Although Vitamin D deficiency myopathy typically includes muscle atrophy, [65] rarely calf muscle hypertrophy has been reported. [68] [69]

Exercise-induced, electrically silent, muscle cramping and stiffness (transient muscle contractures or "pseudomyotonia") are seen not only in GSD types V, VII, IXd, X, XI, XII, and XIII, but also in Brody disease, Rippling muscle disease types 1 and 2, and CAV3-related hyperCKemia (Elevated serum creatine phosphokinase). [26] Unlike the other myopathies, in Brody disease the muscle cramping is painless. [70] [71] Like GSD types II, III, and V, a pseudoathletic appearance of muscle hypertrophy is also seen in some with Brody disease and Rippling muscle disease. [70] [72] [73]

Erythrocyte lactate transporter defect (formerly Lactate transporter defect, myopathy due to) also includes exercise-induced, electrically silent, painful muscle cramping and transient contractures; as well as exercise-induced muscle fatigue. [26] [74] EMG and muscle biopsy is normal however, as the defect is not in the muscle but in the red blood cells that should clear lactate buildup from exercising muscles. [74]

Although most muscular dystrophies have fixed muscle weakness rather than exercise-induced muscle fatigue and/or cramping, there are a few exceptions. Limb–girdle muscular dystrophy autosomal recessive 23 (LGMD R23) has calf hypertrophy and exercise-induced cramping. [75] Myofibrillar myopathy 10 (MFM10) has exercise-induced muscle fatigue, cramping and stiffness, with hypertrophic neck and shoulder girdle muscles. [76] LGMD R28 has calf hypertrophy and exercise-induced muscle fatigue and pain. [77] LGMD R8 has calf pseudohypertrophy and exercise-induced weakness (fatigue) and pain. [78] LGMD R15 (a.k.a MDDGC3) has muscle hypertrophy, proximal muscle weakness, and muscle fatigue. [79]

DMD-related myopathies of Duchenne and Becker muscular dystrophy are known for fixed muscle weakness and pseudohypertrophic calf muscles, but they also have secondary muscular mitochondrial impairment causing low ATP production; as well as decreasing type II (fast-twitch/glycolytic) muscle fibres, producing a predominance of type I (slow-twitch/oxidative) muscle fibres. [80] DMD-related childhood-onset milder phenotypes present with exercise-induced muscle cramping, stiffness, pain, fatigue, and elevated CK. [81] Becker muscular dystrophy has adult-onset exercise-induced muscle cramping, pain, and elevated CK. [82]

Tubular aggregate myopathy (TAM) types 1 and 2 has exercise-induced muscle pain, fatigue, stiffness, with proximal muscle weakness and calf muscle pseudohypertrophy. TAM1 has cramping at rest, while TAM2 has cramping during exercise. [83] [84] [85] [86] Stormorken syndrome includes the symptoms of TAM, but is a more severe presentation including short stature and other abnormalities. [84] Satoyoshi syndrome has exercise-induced painful muscle cramps, muscle hypertrophy, and short stature. [87] Dimethylglycine dehydrogenase deficiency has muscle fatigue, elevated CK, and fishy body odour. [88] Myopathy with myalgia, increased serum creatine kinase, with or without episodic rhabdomyolysis (MMCKR) has exercise-induced muscle cramps, pain, and fatigue; with some exhibiting proximal muscle weakness. [89]

Liver

(help wikipedia by contributing to this subsection)

Glycogenosis-like phenotype of congenital hyperinsulinism due to HNF4A mutation or MODY1 (maturity-onset diabetes of the young, type 1). This phenotype of MODY1 has macrosomia and infantile-onset hyperinsulinemic hypoglycemia, physiological 3-OH butyrate, increased triglyceride serum levels, increased level of glycogen in liver and erythrocytes, increased liver transaminases, transient hepatomegaly, renal Fanconi syndrome, and later develop liver cirrhosis, decreased succinate-dependent respiration (mitochondrial dysfunction), rickets, nephrocalcinosis, chronic kidney disease, and diabetes. [90] [91] [92]

Treatment

Treatment is dependent on the type of glycogen storage disease. Von Gierke disease (GSD-I) is typically treated with frequent small meals of carbohydrates and cornstarch, called modified cornstarch therapy, to prevent low blood sugar, while other treatments may include allopurinol and human granulocyte colony stimulating factor. [93]

Cori/Forbes disease (GSD-III) treatment may use modified cornstarch therapy, a high protein diet with a preference to complex carbohydrates. However, unlike GSD-I, gluconeogenesis is functional, so simple sugars (sucrose, fructose, and lactose) are not prohibited. [16]

A ketogenic diet has demonstrated beneficial for McArdle disease (GSD-V) as ketones readily convert to acetyl CoA for oxidative phosphorylation, whereas free fatty acids take a few minutes to convert into acetyl CoA. [94] [95]

For phosphoglucomutase deficiency (formerly GSD-XIV), D-galactose supplements and exercise training has shown favourable improvement of signs and symptoms. [30] In terms of exercise training, some patients with phosphoglucomutase deficiency also experience "second wind." [30] [32]

For McArdle disease (GSD-V), regular aerobic exercise utilizing "second wind" to enable the muscles to become aerobically conditioned, as well as anaerobic exercise (strength training) that follows the activity adaptations so as not to cause muscle injury, helps to improve exercise intolerance symptoms and maintain overall health. [45] [60] [96] [97] Studies have shown that regular low-moderate aerobic exercise increases peak power output, increases peak oxygen uptake (V̇O2 peak), lowers heart rate, and lowers serum CK in individuals with McArdle disease. [96] [97]

Regardless of whether the patient experiences symptoms of muscle pain, muscle fatigue, or cramping, the phenomenon of second wind having been achieved is demonstrable by the sign of an increased heart rate dropping while maintaining the same speed on the treadmill. [97] Inactive patients experienced second wind, demonstrated through relief of typical symptoms and the sign of an increased heart rate dropping, while performing low-moderate aerobic exercise (walking or brisk walking). [97]

Conversely, patients that were regularly active did not experience the typical symptoms during low-moderate aerobic exercise (walking or brisk walking), but still demonstrated second wind by the sign of an increased heart rate dropping. [97] [98] For the regularly active patients, it took more strenuous exercise (very brisk walking/jogging or bicycling) for them to experience both the typical symptoms and relief thereof, along with the sign of an increased heart rate dropping, demonstrating second wind. [97] [98] [99]

In young children (<10 years old) with McArdle disease (GSD-V), it may be more difficult to detect the second wind phenomenon. They may show a normal heart rate, with normal or above normal peak cardio-respiratory capacity (V̇O2max). [45] [100] That said, patients with McArdle disease typically experience symptoms of exercise intolerance before the age of 10 years, [45] with the median symptomatic age of 3 years. [59] [101]

Tarui disease (GSD-VII) patients do not experience the "second wind" phenomenon; instead are said to be "out-of-wind." [45] [60] [102] However, they can achieve sub-maximal benefit from lipid metabolism of free fatty acids during aerobic activity following a warm-up. [45]

Epidemiology

Relative incidences of the main types of glycogen storage disease Relative incidences of glycogen storage diseases.png
Relative incidences of the main types of glycogen storage disease

Overall, according to a study in British Columbia, approximately 2.3 children per 100,000 births (1 in 43,000) have some form of glycogen storage disease. [103] In the United States, they are estimated to occur in 1 per 20,000–25,000 births. [10] Dutch incidence rate is estimated to be 1 per 40,000 births. While a Mexican incidence showed 6.78:1000 male newborns. [12] [104]

Within the category of muscle glycogenoses (muscle GSDs), McArdle disease (GSD-V) is by far the most commonly diagnosed. [59]

See also

Related Research Articles

Kocher–Debré–Semelaigne syndrome (KDSS) is hypothyroidism in infancy or childhood characterised by lower extremity or generalized muscular hypertrophy, myxoedema, short stature, and cognitive impairment.

<span class="mw-page-title-main">Adenosine monophosphate deaminase deficiency type 1</span> Metabolic disorder leading to muscle dysfunction

Adenosine monophosphate deaminase deficiency type 1 or AMPD1, is a human metabolic disorder in which the body consistently lacks the enzyme AMP deaminase, in sufficient quantities. This may result in exercise intolerance, muscle pain and muscle cramping. The disease was formerly known as myoadenylate deaminase deficiency (MADD).

<span class="mw-page-title-main">Glycogen storage disease type V</span> Human disease caused by deficiency of a muscle enzyme

Glycogen storage disease type V, also known as McArdle's disease, is a metabolic disorder, one of the metabolic myopathies, more specifically a muscle glycogen storage disease, caused by a deficiency of myophosphorylase. Its incidence is reported as one in 100,000, roughly the same as glycogen storage disease type I.

<span class="mw-page-title-main">Phosphoglucomutase</span> Metabolic enzyme

Phosphoglucomutase is an enzyme that transfers a phosphate group on an α-D-glucose monomer from the 1 to the 6 position in the forward direction or the 6 to the 1 position in the reverse direction.

Muscle fatigue is when muscles that were initially generating a normal amount of force, then experience a declining ability to generate force. It can be a result of vigorous exercise, but abnormal fatigue may be caused by barriers to or interference with the different stages of muscle contraction. There are two main causes of muscle fatigue: the limitations of a nerve’s ability to generate a sustained signal ; and the reduced ability of the muscle fiber to contract.

<span class="mw-page-title-main">Phosphofructokinase deficiency</span> Medical condition

Phosphofructokinase deficiency is a rare muscular metabolic disorder, with an autosomal recessive inheritance pattern. It is characterized as a deficiency in the Phosphofructokinase (PFK) enzyme throughout the body, including the skeletal muscles and red blood cells. Phosphofrucotkinase is an enzyme involved in the glycolytic process. The lack of PFK blocks the completion of the glycolytic pathway. Therefore, all products past the block would be deficient, including Adenosine triphosphate (ATP).

In medicine, myopathy is a disease of the muscle in which the muscle fibers do not function properly. Myopathy means muscle disease. This meaning implies that the primary defect is within the muscle, as opposed to the nerves or elsewhere.

<span class="mw-page-title-main">Hitting the wall</span> Sudden fatigue during endurance sports

In endurance sports such as road cycling and long-distance running, hitting the wall or the bonk is a condition of sudden fatigue and loss of energy which is caused by the depletion of glycogen stores in the liver and muscles. Milder instances can be remedied by brief rest and the ingestion of food or drinks containing carbohydrates. Otherwise, it can be remedied by attaining second wind by either resting for approximately 10 minutes or by slowing down considerably and increasing speed slowly over a period of 10 minutes. Ten minutes is approximately the time that it takes for free fatty acids to sufficiently produce ATP in response to increased demand.

<span class="mw-page-title-main">Mitochondrial myopathy</span> Muscle disorders caused by mitochondrial dysfunction

Mitochondrial myopathies are types of myopathies associated with mitochondrial disease. Adenosine triphosphate (ATP), the chemical used to provide energy for the cell, cannot be produced sufficiently by oxidative phosphorylation when the mitochondrion is either damaged or missing necessary enzymes or transport proteins. With ATP production deficient in mitochondria, there is an over-reliance on anaerobic glycolysis which leads to lactic acidosis either at rest or exercise-induced.

<span class="mw-page-title-main">Glycogen storage disease type III</span> Medical condition

Glycogen storage disease type III (GSD III) is an autosomal recessive metabolic disorder and inborn error of metabolism (specifically of carbohydrates) characterized by a deficiency in glycogen debranching enzymes. It is also known as Cori's disease in honor of the 1947 Nobel laureates Carl Cori and Gerty Cori. Other names include Forbes disease in honor of clinician Gilbert Burnett Forbes (1915–2003), an American physician who further described the features of the disorder, or limit dextrinosis, due to the limit dextrin-like structures in cytosol. Limit dextrin is the remaining polymer produced after hydrolysis of glycogen. Without glycogen debranching enzymes to further convert these branched glycogen polymers to glucose, limit dextrinosis abnormally accumulates in the cytoplasm.

<span class="mw-page-title-main">Myophosphorylase</span> Muscle enzyme involved in glycogen breakdown

Myophosphorylase or glycogen phosphorylase, muscle associated (PYGM) is the muscle isoform of the enzyme glycogen phosphorylase and is encoded by the PYGM gene. This enzyme helps break down glycogen into glucose-1-phosphate, so it can be used within the muscle cell. Mutations in this gene are associated with McArdle disease, a glycogen storage disease of muscle.

Second wind is a phenomenon in endurance sports, such as marathons or road running, whereby an athlete who is out of breath and too tired to continue, finds the strength to press on at top performance with less exertion. The feeling may be similar to that of a "runner's high", the most obvious difference being that the runner's high occurs after the race is over. In muscle glycogenoses, an inborn error of carbohydrate metabolism impairs either the formation or utilization of muscle glycogen. As such, those with muscle glycogenoses do not need to do prolonged exercise to experience "hitting the wall". Instead, signs of exercise intolerance, such as an inappropriate rapid heart rate response to exercise, are experienced from the beginning of an activity, and some muscle GSDs can achieve second wind within about 10 minutes from the beginning of the aerobic activity, such as walking. (See below in pathology).

<span class="mw-page-title-main">Inborn errors of carbohydrate metabolism</span> Medical condition

Inborn errors of carbohydrate metabolism are inborn error of metabolism that affect the catabolism and anabolism of carbohydrates.

Danon disease is a metabolic disorder. Danon disease is an X-linked lysosomal and glycogen storage disorder associated with hypertrophic cardiomyopathy, skeletal muscle weakness, and intellectual disability. It is inherited in an X-linked dominant pattern.

<span class="mw-page-title-main">Metabolic myopathy</span> Muscular diseases caused by defects in metabolic processes

Metabolic myopathies are myopathies that result from defects in biochemical metabolism that primarily affect muscle. They are generally genetic defects that interfere with the ability to create energy, causing a low ATP reservoir within the muscle cell.

Hoffmann syndrome is a rare form of hypothyroid myopathy and is not to be confused with Werdnig-Hoffmann disease.

<span class="mw-page-title-main">Acquired non-inflammatory myopathy</span> Medical condition

Acquired non-inflammatory myopathy (ANIM) is a neuromuscular disorder primarily affecting skeletal muscle, most commonly in the limbs of humans, resulting in a weakness or dysfunction in the muscle. A myopathy refers to a problem or abnormality with the myofibrils, which compose muscle tissue. In general, non-inflammatory myopathies are a grouping of muscular diseases not induced by an autoimmune-mediated inflammatory pathway. These muscular diseases usually arise from a pathology within the muscle tissue itself rather than the nerves innervating that tissue. ANIM has a wide spectrum of causes which include drugs and toxins, nutritional imbalances, acquired metabolic dysfunctions such as an acquired defect in protein structure, and infections.

<span class="mw-page-title-main">Purine nucleotide cycle</span> Protein metabolic pathway

The Purine Nucleotide Cycle is a metabolic pathway in protein metabolism requiring the amino acids aspartate and glutamate. The cycle is used to regulate the levels of adenine nucleotides, in which ammonia and fumarate are generated. AMP converts into IMP and the byproduct ammonia. IMP converts to S-AMP (adenylosuccinate), which then converts to AMP and the byproduct fumarate. The fumarate goes on to produce ATP (energy) via oxidative phosphorylation as it enters the Krebs cycle and then the electron transport chain. Lowenstein first described this pathway and outlined its importance in processes including amino acid catabolism and regulation of flux through glycolysis and the Krebs cycle.

<span class="mw-page-title-main">Pseudoathletic appearance</span> False appearance of an athletic body due to disease or injury

Pseudoathletic appearance is a medical sign meaning to have the false appearance of a well-trained athlete due to pathologic causes instead of true athleticism. It is also referred to as a Herculean or bodybuilder-like appearance. It may be the result of muscle inflammation, muscle hyperplasia, muscle hypertrophy, muscle pseudohypertrophy, or symmetrical subcutaneous deposits of fat or other tissue.

References

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  10. 1 2 eMedicine Specialties > Glycogen-Storage Disease Type I Author: Karl S Roth. Updated: Aug 31, 2009
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  13. ↑ Bodamer, Olaf A.; Scott, C. Ronald; Giugliani, Roberto; Pompe Disease Newborn Screening Working Group (2017). "Newborn Screening for Pompe Disease". Pediatrics. 140 (Suppl 1): S4 –S13. doi: 10.1542/peds.2016-0280C . PMID   29162673. S2CID   43782810.
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