Inborn disorder of branched-chain amino acid metabolism

MONDO:0019242

An 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, 0 tagged with Inborn disorder of branched-chain amino acid metabolism itself.

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Part of

↑ Inborn disorder of amino acid metabolism (159) ↑ Disorder of organic acid metabolism (154)

Sub-types of Inborn disorder of branched-chain amino acid metabolism

Maple syrup urine disease 2 trials · 4 incl. sub-types
9 sub-types
- Maple syrup urine disease type 1A 1 trial
- Maple syrup urine disease type 1B 1 trial
- Maple syrup urine disease type 2 1 trial
- Pyruvate dehydrogenase E3 deficiency 1 trial
- Classic maple syrup urine disease 0 trials
- Intermediate maple syrup urine disease 0 trials
- Intermittent maple syrup urine disease 0 trials
- Maple syrup urine disease, mild variant 0 trials
- Thiamine-responsive maple syrup urine disease 0 trials
Holocarboxylase synthetase deficiency 1 trial
3-hydroxyisobutyric aciduria 0 trials
3-hydroxyisobutyryl-CoA hydrolase deficiency 0 trials
Branched-chain keto acid dehydrogenase kinase deficiency 0 trials
Hypervalinemia and hyperleucine-isoleucinemia 0 trials
Methylmalonate semialdehyde dehydrogenase deficiency 0 trials

Including sub-types (4) Tagged with Inborn disorder of branched-chain amino acid metabolism (0)

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