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Article

Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency.

Journal of inherited metabolic disease - 1 Jan 2005

Olpin S E, Clark S, Andresen B S, Bischoff C, Olsen R K J, Gregersen N, Chakrapani A, Downing M, Manning N J, Sharrard M, Bonham J R, Muntoni F, Turnbull D N, Pourfarzam M

Abstract excerpt

General mitochondrial trifunctional protein (TFP) deficiency leads to a wide clinical spectrum of disease ranging from severe neonatal/infantile cardiomyopathy and early death to mild chronic progressive sensorimotor poly-neuropathy with episodic rhabdomyolysis. Isolated long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency resulting from the common Glu510Gln mutation usually gives rise to a moderately...

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Identifiers

PMID: 15902556
DOI: 10.1007/s10545-005-0533-8

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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