Molecular genetic characterization and urinary excretion pattern of metabolites in two families with MCAD deficiency due to compound heterozygosity with a 13 base pair insertion in one allele.

doi:10.1007/BF00711614

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Article

Molecular genetic characterization and urinary excretion pattern of metabolites in two families with MCAD deficiency due to compound heterozygosity with a 13 base pair insertion in one allele.

Journal of inherited metabolic disease - 1 Jan 1994

Gregersen N, Winter V, Lyonnet S, Saudubray J M, Wendel U, Jensen T G, Andresen B S, Kølvraa S, Lehnert W, Bolund L

Abstract excerpt

Two families with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency due to compound heterozygosity are described. All patients have a 13 bp insertion in exon 11 of one allele at the MCAD gene locus. In the other allele patients in one of the families harbour the prevalent G985 mutation, and the other family possess an unidentified mutation causing reduced levels of MCAD mRNA. We demonstrate that the disease...

Topics

Acyl-CoA Dehydrogenase
Acyl-CoA Dehydrogenases
Adult
Alleles
Amino Acid Sequence
Base Sequence
Blotting, Western
Child, Preschool
DNA Transposable Elements
DNA, Complementary

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Female

Genotype

Glycine

Haplotypes

Humans

Infant, Newborn

Male

Molecular Sequence Data

Source

Open in PubMed

Identifiers

PMID: 7967471
DOI: 10.1007/BF00711614

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7967471-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Molecular genetic characterization and urinary excretion pattern of metabolites in two families with MCAD deficiency due to compound heterozygosity with a 13 base pair insertion in one allele.PMID 7967471Read ↗

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