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Article

[Metabolic disorders of amino acids due to enzyme mutation--branched-chain amino acids].

Nihon rinsho. Japanese journal of clinical medicine - 1 Jul 1992

Wada Y

Abstract excerpt

Three kinds of inborn error of branched-chain amino acids (valine, leucine isoleucine) are described with a focus on the findings in recent biochemistry and molecular genetics. Frequency of valinemia and leucinisoleucinemia is quite low but their significance is distinct because of our knowledge that at least two aminotransferases, one branched-chain keto acids dehydrogenase and two short-chain acyl-CoA...

Topics

Amino Acid Metabolism, Inborn Errors
Amino Acids, Branched-Chain
Humans
Mutation
Prognosis
Transaminases

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 1404884

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1404884-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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