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Article

Identification of two mutations in a compound heterozygous child with dihydrolipoamide dehydrogenase deficiency.

Human molecular genetics - 1 Dec 1996

Hong Y S, Kerr D S, Craigen W J, Tan J, Pan Y, Lusk M, Patel M S

Abstract excerpt

An infant girl with elevated blood lactate, pyruvate, and plasma branched-chain amino acids was diagnosed with dihydrolipoamide dehydrogenase (E3; dihydrolipoamide: NAD+ oxidoreductase, EC 1.8.1.4) deficiency. Activities of the pyruvate dehydrogenase complex and E3 from patient were 26 and 2% of controls in blood lymphocytes, and 11 and 14% in cultured skin fibroblasts, respectively. Western blot analysis...

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Source

Identifiers

PMID: 8968745
DOI: 10.1093/hmg/5.12.1925

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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Identification of two mutations in a compound heterozygous child with dihydrolipoamide dehydrogenase deficiency.PMID 8968745Read ↗

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