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Alkaptonuria is a rare inherited genetic disease which is caused by a mutation in the HGD gene for the enzyme homogentisate 1,2-dioxygenase ; if a person inherits an abnormal copy from both parents, the body accumulates an intermediate substance called homogentisic acid in the blood and tissues. Homogentisic acid and its oxidized form alkapton are excreted in the urine, giving it an unusually dark color. The accumulating homogentisic acid causes damage to cartilage and heart valves, as well as precipitating as kidney stones and stones in other organs. Symptoms usually develop in people over 30 years old, although the dark discoloration of the urine is present from birth.
Hyperammonemia is a metabolic disturbance characterised by an excess of ammonia in the blood. It is a dangerous condition that may lead to brain injury and death. It may be primary or secondary.
Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of enzyme activities. The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances (substrates) into others (products). In most of the disorders, problems arise due to accumulation of substances which are toxic or interfere with normal function, or due to the effects of reduced ability to synthesize essential compounds. Inborn errors of metabolism are now often referred to as congenital metabolic diseases or inherited metabolic disorders. To this concept it's possible to include the new term of Enzymopathy. This term was created following the study of Biodynamic Enzymology, a science based on the study of the enzymes and their derivated products. Finally, inborn errors of metabolism were studied for the first time by British physician Archibald Garrod (1857–1936), in 1908. He is known for work that prefigured the "one gene-one enzyme" hypothesis, based on his studies on the nature and inheritance of alkaptonuria. His seminal text, Inborn Errors of Metabolism, was published in 1923.
Pediatric endocrinology is a medical subspecialty dealing with disorders of the endocrine glands, such as variations of physical growth and sexual development in childhood, diabetes and many more.
Sir Archibald Edward Garrod was an English physician who pioneered the field of inborn errors of metabolism. He also discovered alkaptonuria, understanding its inheritance. He served as Regius Professor of Medicine at the University of Oxford from 1920 to 1927.
A metabolic disorder is a disorder that negatively alters the body's processing and distribution of macronutrients, such as proteins, fats, and carbohydrates. Metabolic disorders can happen when abnormal chemical reactions in the body alter the normal metabolic process. It can also be defined as inherited single gene anomaly, most of which are autosomal recessive.
Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics differs from human genetics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics.
Metab-L is an electronic mailing list on inborn errors of metabolism (IEM) that has acquired notability among specialists in that field of medicine, especially from the area of pediatrics.
Pentosuria is a condition where the sugar xylitol, a pentose, presents in the urine in unusually high concentrations. It was characterized as an inborn error of carbohydrate metabolism in 1908. It is associated with a deficiency of L-xylulose reductase, necessary for xylitol metabolism. L-Xylulose is a reducing sugar, so it may give false diagnosis of diabetes, as it is found in high concentrations in urine. However glucose metabolism is normal in people with pentosuria, and they are not diabetic. Patients of pentosuria have a low concentration of the sugar d-xyloketose. Using phenyl pentosazone crystals, phloroglucin reaction, and absorption spectrum, pentose can be traced back as the reducing substance in urine, with those that have pentosuria.
Alfred Henry Garrod FRS was an English vertebrate zoologist.
Inborn errors of purine–pyrimidine metabolism are a class of inborn error of metabolism disorders specifically affecting purine metabolism and pyrimidine metabolism. An example is Lesch–Nyhan syndrome.
Sir Alfred Baring Garrod was an English physician.
The Journal of Inherited Metabolic Disease is a bimonthly peer-reviewed medical journal covering inherited metabolic disorders. It was established in 1978 and is the official journal of the Society for the Study of Inborn Errors of Metabolism.
Harry Harris FRS, FCRP, was a British-born biochemist. His work showed that human genetic variation was not rare and disease-causing but instead was common and usually harmless. He was the first to demonstrate, with biochemical tests, that with the exception of identical twins we are all different at the genetic level. This work paved the way for many well-known genetic concepts and procedures such as DNA fingerprinting, the prenatal diagnosis of disorders using genetic markers, the extensive heterogeneity of inherited diseases, and the mapping of human genes to chromosomes
Leonard George Guthrie FRCP was senior physician and paediatrician to the Paddington Green Children's Hospital in London and was also associated with the Hospital for Epilepsy and Paralysis in Maida Vale, London.
George Graham (1882–1971) was a British physician, physiologist, and diabetologist.
Sir Frederick William Andrewes was an English physician, pathologist, and bacteriologist.
Harvey Louis Levy is an American biochemical geneticist, pediatrician, physician scientist and academic. He is Senior Physician in Medicine and Genetics at Boston Children’s Hospital and Professor of Pediatrics at Harvard Medical School.
The Human Genetics Society of Australasia (HGSA) is a membership organization for individuals in the field of human genetics who primarily practise in the Oceania region. Members typically hold both a qualification in human genetics and work in the field. Membership is drawn from clinical, laboratory and academic specialties. Members include clinical geneticists; genetic counsellors; laboratory scientists ; and academics.
References
- ↑ Archibald E. Garrod. Inborn Errors of Metabolism: The Croonian Lectures Delivered Before the Royal College of Physicians of London, 1908
- ↑ Vasudevan, D. M.; MD, DM Vasudevan MD FAMS FRCPath, S Sreekumari MD & Vaidyanathan Kannan (2010). Textbook of Biochemistry for Medical Students. JP Medical Ltd. p. 208. ISBN 978-9350250167.
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