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Article

Genetic mapping of glutaric aciduria, type 3, to chromosome 7 and identification of mutations in c7orf10.

American journal of human genetics - 1 Nov 2008

Sherman Eric A, Strauss Kevin A, Tortorelli Silvia, Bennett Michael J, Knerr Ina, Morton D Holmes, Puffenberger Erik G

Abstract excerpt

While screening Old Order Amish children for glutaric aciduria type 1 (GA1) between 1989 and 1993, we found three healthy children who excreted abnormal quantities of glutaric acid but low 3-hydroxyglutaric acid, a pattern consistent with glutaric aciduria type 3 (GA3). None of these children had the GCDH c.1262C-->T mutation that causes GA1 among the Amish. Using single-nucleotide polymorphism (SNP) genotypes,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 18926513
DOI: 10.1016/j.ajhg.2008.09.018
PMCID: PMC2668038

Genes

GCDH

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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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