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Browse result for Fatal infantile leukodystrophy
※ introduction Metachromatic leukodystrophy (MLD) is a lysosomal storage disease which is commonly listed in the family of leukodystrophies as well as among the sphingolipidoses as it affects the metabolism of sphingolipids. Leukodystrophies affect the growth and/or development of myelin, the fatty covering which acts as an insulator around nerve fibers throughout the central and peripheral nervous systems. MLD involves cerebroside sulfate accumulation.[1][2] Metachromatic leukodystrophy, like most enzyme deficiencies, has an autosomal recessive inheritance pattern.[2]
Reference
Wiki: Fatal infantile leukodystrophy
Reference
Wiki: Fatal infantile leukodystrophy
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD00517 | P08559 | 5160 | PDHA1 | Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial | Homo sapiens |
| PTMD01381 | P82909 | 92259 | KGD4 | Alpha-ketoglutarate dehydrogenase component 4 | Homo sapiens |
