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GTR Home > Conditions/Phenotypes > Glutaric aciduria, type 1

Glutaric aciduria, type 1

Synonyms
GA I; Glutaric acidemia type 1; Glutaric acidemia type I; Glutaricacidemia Type 1; Glutaricaciduria, type I; Glutaryl-CoA dehydrogenase deficiency
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Glutaric Acidemia Type 1
The phenotypic spectrum of untreated glutaric acidemia type 1 (GA-1) ranges from the more common form (infantile-onset disease) to the less common form (later-onset disease – i.e., after age 6 years). Of note, the GA-1 phenotype can vary widely between untreated family members with the same genotype, primarily as a function of the age at which the first acute encephalopathic crisis occurred: three months to six years in infantile-onset GA-1 and after age six years in later-onset GA-1. Characteristically these crises result in acute bilateral striatal injury and subsequent complex movement disorders. In the era of newborn screening (NBS), the prompt initiation of treatment of asymptomatic infants detected by NBS means that most individuals who would have developed manifestations of either infantile-onset or later-onset GA-1 remain asymptomatic; however, they may be at increased risk for other manifestations (e.g., renal disease) that are becoming apparent as the understanding of the natural history of treated GA-1 continues to evolve.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Austin Larson
Steve Goodman
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Available tests

110 tests are in the database for this condition.

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Clinical tests (110 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ACAD5, GCD, GCDH
    Summary: glutaryl-CoA dehydrogenase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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Reviews

Clinical resources

Practice guidelines

  • ACMG ACT, 2022
    American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated C5-DC Acylcarnitine, Glutaric Acidemia Type I (GA I), 2022
  • ACMG Algorithm, 2022
    American College of Medical Genetics and Genomics, Algorithm, Glutaric Acidemia Type I (GA I): Elevated C5-DC, 2022

Molecular resources

Consumer resources

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