Inborn disorder of branched-chain amino acid metabolism
MONDO:0019242An inherited metabolic disease that is has its basis in the disruption of branched-chain amino acid metabolic process.
Also known as: disorder of branched-chain amino acid metabolism, inborn branched-chain amino acid metabolic process disorder, inborn disorder of branched-chain amino acid metabolism, inborn error of branched-chain amino acid metabolic process, rare inborn error of branched-chain amino acid metabolic process, branched chain amino acid metabolism disorder, disorder of branched chain amino acid metabolism
4 clinical trials for this condition and its sub-types.
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Maple syrup urine disease
(2)
Holocarboxylase synthetase deficiency
(1)
Maple syrup urine disease type 1A
(1)
Maple syrup urine disease type 1B
(1)
Maple syrup urine disease type 2
(1)
Pyruvate dehydrogenase E3 deficiency
(1)
3-hydroxyisobutyric aciduria
(0)
3-hydroxyisobutyryl-CoA hydrolase deficiency
(0)
Branched-chain keto acid dehydrogenase kinase deficiency
(0)
Classic maple syrup urine disease
(0)
Hypervalinemia and hyperleucine-isoleucinemia
(0)
Intermediate maple syrup urine disease
(0)
Intermittent maple syrup urine disease
(0)
Maple syrup urine disease, mild variant
(0)
Methylmalonate semialdehyde dehydrogenase deficiency
(0)
Thiamine-responsive maple syrup urine disease
(0)
Broader categories
Disease
(717)
Metabolic disease
(241)
Hereditary disease
(188)
Inborn errors of metabolism
(47)
Human disease
(15)
Inborn disorder of amino acid metabolism
(6)
Amino acid metabolism disease
(2)
Disease of genetic or genomic mechanism
(2)
Disease by developmental or physiological process
(0)
Disease by etiologic mechanism
(0)