FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
CV Term Report
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General Information
Term dihydrolipoamide dehydrogenase deficiency ID (Ontology) DOID:0061204 (Human Disease)
Definition A maple syrup urine disease characterized biochemically by a combined deficiency of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), pyruvate dehydrogenase complex (PDC), and alpha-ketoglutarate dehydrogenase complex (KGDC) and that has_material_basis_in homozygous or compound heterozygous mutation in the DLD gene on chromosome 7q31.
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 Genes
 dihydrolipoamide dehydrogenase deficiency       1
 for disease ribbon | dihydrolipoamide dehydrogenase deficiency       1
 model of | dihydrolipoamide dehydrogenase deficiency       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
organic acidemia                 |
 |__maple syrup urine disease____|
                                 dihydrolipoamide dehydrogenase deficiency  1 rec.
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Is a autosomal recessive disease
maple syrup urine disease
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MIM:246900