Dihydrolipoamide dehydrogenase deficiency; E3 deficiency; Maple syrup urine disease type III
Supergrp
Pyruvate dehydrogenase complex deficiency [DS:H00072] Maple syrup urine disease [DS:H00172] Alpha-ketoglutarate dehydrogenase complex deficiency [DS:H02006] Diseases of the tricarboxylic acid cycle [DS:H01022] Mitochondrial disease [DS:H01427]
Description
Dihydrolipoamide dehydrogenase (DLD) deficiency, also known as maple syrup urine disease type III, is a rare autosomal recessive disorder. DLD functions as the E3 subunit of three mitochondrial enzyme complexes: branched chain alpha-ketoacid dehydrogenase, alpha-ketoglutarate dehydrogenase, and pyruvate dehydrogenase. DLD deficiency variably presents with either a severe neonatal encephalopathic phenotype or a primarily hepatic phenotype.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C53 Inborn errors of energy metabolism
H02000 Dihydrolipoamide dehydrogenase deficiency
Pathway-based classification of diseases [BR:br08402]
Carbohydrate metabolism
nt06031 Citrate cycle and pyruvate metabolism
H02000 Dihydrolipoamide dehydrogenase deficiency
Amino acid metabolism
nt06024 Valine, leucine and isoleucine degradation
H02000 Dihydrolipoamide dehydrogenase deficiency
Cofactor/vitamin metabolism
nt06032 Lipoic acid metabolism
H02000 Dihydrolipoamide dehydrogenase deficiency
Odievre MH, Chretien D, Munnich A, Robinson BH, Dumoulin R, Masmoudi S, Kadhom N, Rotig A, Rustin P, Bonnefont JP
Title
A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency.
