Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct.

doi:10.1203/00006450-200009000-00009

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Article

Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct.

Pediatric research - 1 Sept 2000

Busquets C, Merinero B, Christensen E, Gelpí J L, Campistol J, Pineda M, Fernández-Alvarez E, Prats J M, Sans A, Arteaga R, Martí M, Campos J, Martínez-Pardo M, Martínez-Bermejo A, Ruiz-Falcó M L, Vaquerizo J, Orozco M, Ugarte M, Coll M J, Ribes A

Abstract excerpt

Glutaryl-CoA dehydrogenase (GCDH) deficiency causes glutaric aciduria type I (GA I), an inborn error of metabolism that is characterized clinically by dystonia and dyskinesia and pathologically by neural degeneration of the caudate and putamen. Studies of metabolite excretion allowed us to categorize 43 GA I Spanish patients into two groups: group 1 (26 patients), those presenting with high excretion of both...

Topics

Alleles
Amino Acid Sequence
Female
Gene Frequency
Glutarates
Glutaryl-CoA Dehydrogenase
Humans
Male
Metabolic Diseases
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Oxidoreductases

Oxidoreductases Acting on CH-CH Group Donors

Polymorphism, Genetic

Sequence Alignment

Spain

Source

Open in PubMed

Identifiers

PMID: 10960496
DOI: 10.1203/00006450-200009000-00009

Genes

GCDH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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