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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



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD00517P085595160
PDHA1
Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial
Homo sapiens
PTMD01381P8290992259
KGD4
Alpha-ketoglutarate dehydrogenase component 4
Homo sapiens