[Complex heterogeneity phenotypes and genotypes of glutaric aciduria type 1].

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Article

[Complex heterogeneity phenotypes and genotypes of glutaric aciduria type 1].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 1 May 2016

Wang Qiao, Yang Yan-Ling

Abstract excerpt

Glutaric aciduria type 1 is a rare autosomal recessive disorder. GCDH gene mutations cause glutaryl-CoA dehydrogenase deficiency and accumulation of glutaric acid and 3-hydroxyglutaric acid, resulting in damage of striatum and other brain nucleus and neurodegeneration. Patients with glutaric aciduria type 1 present with complex heterogeneous phenotypes and genotypes. The symptoms are extremely variable. The ages...

Topics

Amino Acid Metabolism, Inborn Errors
Brain Diseases, Metabolic
Genotype
Glutaryl-CoA Dehydrogenase
Humans
Infant, Newborn
Neonatal Screening
Phenotype
Prenatal Diagnosis
Prognosis

Source

Open in PubMed Open full text

Identifiers

PMID: 27165598
PMCID: PMC7390359

Genes

GCDH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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