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A congenital disorder of glycosylation is one of several rare inborn errors of metabolism in which glycosylation of a variety of tissue proteins and/or lipids is deficient or defective. Congenital disorders of glycosylation are sometimes known as CDG syndromes. They often cause serious, sometimes fatal, malfunction of several different organ systems in affected infants. The most common sub-type is PMM2-CDG where the genetic defect leads to the loss of phosphomannomutase 2 (PMM2), the enzyme responsible for the conversion of mannose-6-phosphate into mannose-1-phosphate.
Dry eye syndrome (DES), also known as keratoconjunctivitis sicca (KCS), is the condition of having dry eyes. Other associated symptoms include irritation, redness, discharge, and easily fatigued eyes. Blurred vision may also occur. The symptoms can range from mild and occasional to severe and continuous. Scarring of the cornea may occur in some cases without treatment.
ATP7A, also known as Menkes' protein (MNK), is a copper-transporting P-type ATPase which uses the energy arising from ATP hydrolysis to transport Cu(I) across cell membranes. The ATP7A protein is a transmembrane protein and is expressed in the intestine and all tissues except liver. In the intestine, ATP7A regulates Cu(I) absorption in the human body by transporting Cu(I) from the small intestine into the blood. In other tissues, ATP7A shuttles between the Golgi apparatus and the cell membrane to maintain proper Cu(I) concentrations in the cell and provides certain enzymes with Cu(I). The X-linked, inherited, lethal genetic disorder of the ATP7A gene causes Menkes disease, a copper deficiency resulting in early childhood death.
Triple-A syndrome or AAA syndrome, is a rare autosomal recessive congenital disorder. In most cases, there is no family history of it. The syndrome was first identified by Jeremy Allgrove and colleagues in 1978. The syndrome involves achalasia, addisonianism, and alacrima. Alacrima is usually the earliest manifestation. It is a progressive disorder that can take years to develop the full-blown clinical picture.
Arylsulfatase A is an enzyme that breaks down sulfatides, namely cerebroside 3-sulfate into cerebroside and sulfate. In humans, arylsulfatase A is encoded by the ARSA gene.
Carnitine O-palmitoyltransferase 2, mitochondrial is an enzyme that in humans is encoded by the CPT2 gene.
Zunich–Kaye syndrome, also known as Zunich neuroectodermal syndrome, is a rare congenital ichthyosis first described in 1983. It is also referred to as CHIME syndrome, after its main symptoms. It is a congenital syndrome with only a few cases studied and published.
Mevalonate kinase is an enzyme that in humans is encoded by the MVK gene. Mevalonate kinases are found in a wide variety of organisms from bacteria to mammals. This enzyme catalyzes the following reaction:
Glycine amidinotransferase, mitochondrial is an enzyme that in humans is encoded by the GATM gene.
PHD finger protein 6 is a protein that in humans is encoded by the PHF6 gene.
Hermansky–Pudlak syndrome 3 protein is a protein that in humans is encoded by the HPS3 gene.
Multiple coagulation factor deficiency protein 2 is a protein that in humans is encoded by the MCFD2 gene. Mutations in MCFD2 cause the combined deficiency of factor V and factor VIII (F5F8D), a recessive bleeding disorder. MCFD2 and ERGIC-53 form a protein complex and serve as a cargo receptor to transport FV and FVIII from the ER to the Golgi body. Mutations in LMAN1 gene also cause F5F8D.
Probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase is an enzyme that in humans is encoded by the ALG8 gene.
GDP-fucose transporter 1 is a protein that in humans is encoded by the SLC35C1 gene.
Sialidase 1 , also known as NEU1 is a mammalian lysosomal neuraminidase enzyme which in humans is encoded by the NEU1 gene.
Extracellular matrix protein FRAS1 is a protein that in humans is encoded by the FRAS1 gene. This gene encodes an extracellular matrix protein that appears to function in the regulation of epidermal-basement membrane adhesion and organogenesis during development.
Chitobiosyldiphosphodolichol beta-mannosyltransferase is an enzyme that is encoded by ALG1 whose structure and function has been conserved from lower to higher organisms.
Protein RFT1 homolog is a protein that in humans is encoded by the RFT1 gene.
Interferon kappa, also known as IFN-kappa, is a protein that in humans is encoded by the IFNK gene.
NGLY1 deficiency is a very rare genetic disorder caused by biallelic pathogenic variants in NGLY1. It is an autosomal recessive disorder. Errors in deglycosylation are responsible for the symptoms of this condition. Clinically, most affected individuals display developmental delay, lack of tears, elevated liver transaminases and a movement disorder. NGLY1 deficiency is difficult to diagnose, and most individuals have been identified by exome sequencing.
References
- ↑ "NGLY1 Foundation". NGLY1 deficiency.
- ↑ Need AC, Shashi V, Hitomi Y, Schoch K, Shianna KV, McDonald MT, Meisler MH, Goldstein DB (May 2012). "Clinical application of exome sequencing in undiagnosed genetic conditions". J Med Genet. 49 (6): 353–61. doi:10.1136/jmedgenet-2012-100819. PMC 3375064 . PMID 22581936.
- ↑ Enns GM, Shashi V, Bainbridge M, et al. (March 2014). "Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway". Genet. Med. 16 (10): 751–8. doi:10.1038/gim.2014.22. PMC 4243708 . PMID 24651605.
