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Article

Metabolite studies in HIBCH and ECHS1 defects: Implications for screening.

Molecular genetics and metabolism - 1 Aug 2015

Peters Heidi, Ferdinandusse Sacha, Ruiter Jos P, Wanders Ronald J A, Boneh Avihu, Pitt James

Abstract excerpt

3-Hydroxyisobutyryl-CoA hydrolase deficiency (HIBCHD) is a rare inborn error of the valine catabolic pathway associated with Leigh-like disease. We report a female patient who presented at the age of 5months with hypotonia, developmental delay and cerebral atrophy on MRI. Pyruvate dehydrogenase deficiency was initially suspected and decreased activity was shown in fibroblasts. Urine tandem mass spectrometry...

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Share to Abnormalities, Multiple
Share to Amino Acid Metabolism, Inborn Errors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26163321
DOI: 10.1016/j.ymgme.2015.06.008

Genes

ECHS1
HIBCH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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