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Screening & Prevention >> Newborn Screening >> Organic Acidemias >> Glutaric acidemia type 1

Glutaric acidemia type 1

Disorder Category

an organic acid disorder

Screening

Finding

elevated C5-DC (acylcarnitine)

Tested By

tandem mass spectrometry (MS/MS); sensitivity~90% [Nicola Longo, personal communication, 2007]; specificity=NA [American: 1996]

Names

Glutaric acidemia type 1

GA1, GA-1, GA I

Glutaryl-CoA dehydrogenase deficiency

ICD-9

270.7, Other disturbances of straight-chain amino-acid metabolism

Overview

Inadequate quantities of glutaryl-CoA dehydrogenase limit the ability to break down lysine, hydroxylysine, and tryptophan, leading to excessive levels of their intermediate metabolic products (glutaric and 3-OH-glutaric acid). These can then lead to brain injury, particularly in the basal ganglia.

Prevalence

About 1/40,000 Caucasian live births and 1/30,000 Swedish live births. [Glutaric acidemia type 1 info for professionals, STAR-G] In Old Amish and Ojibway populations, the incidence may be as high as 1/300. [Nicola Longo, personal communication, 2007]

Inheritance

autosomal recessive

Prenatal Testing

Amniocentisis for analyte analysis or enzyme analysis.

Clinical Characteristics

With treatment, normal outcome is possible. Without treatment, outcomes vary but many will have encephalitis-like crises that may result in developmental delay, neurologic deterioration, and/or spastic/dystonic cerebral palsy. Otherwise healthy newborns may have macrocephaly. Symptoms generally begin between 6 months and 3 years of age. Symptoms may be triggered by consuming too much protein and illness. Children may be healthy between metabolic crisis episodes. Profuse sweating may occur in some affected children. Aspirin use may result in Reye syndrome-like symptoms.

Initial symptoms/signs may include:
  • macrocephaly;
  • failure to thrive;
  • metabolic ketoacidosis;
  • hypotonia;
  • dystonia and athetosis.

Follow-up on positive screening test

Plasma acylcarnitine profile and urine organic acids for glutaric and 3-hydroxyglutaric acid. If not confirmatory, urine acylcarnitines for glutarylcarnitine, 3-hydroxyglutaric acid in blood and CSF, enzyme analysis in fibroblasts, and molecular analysis of GCDH gene.

Primary care management

Upon notification of the + screen

If the diagnosis is confirmed

  • Educate the family regarding signs, symptoms, and the need for urgent care when the infant becomes ill (see Glutaric acidemia type 1 info for parents, STAR-G for additional information);
  • Support initiation and maintenance of low lysine, low tryptophan diet;
  • Glucose, carnitine, and fluids given intravenously may be indicated during episodes of acute, intercurrent illness;
  • For those identified after irreversible consequences, assist in management, particularly with developmental and educational interventions.

Specialty Care Management

Initial consultation and ongoing collaboration, particularly for dietary management. Genetic counseling for the family.

Resources

Links

For Professionals

ACT Sheet for Glutaric acidemia type 1 from ACMG (pdf 146kb)
Developed by the American College of Medical Genetics (ACMG), includes recommended responses to positive newborn screening test results, diagnostic evaluation, clinical expectations, and sources of additional information. See the ACMG ACT Sheets and Confirmatory Algorithms (link elsewhere on this page) for more info and sheets on other conditions.

ACMG ACT Sheets and Confirmatory Algorithms
The American College of Medical Genetics (ACMG) has developed ACTion (ACT) Sheets and algorithms for responding to positive newborn screening test results. This page contains a table with links to all of the ACT Sheets and related algorithms.

Glutaric acidemia type 1 info for professionals, STAR-G
On the Screening, Technology and Research in Genetics (STAR-G) site, one of a series of Disorder Fact Sheets for Professionals; structured list of information about the condition, with links to more information.

Glutaric acidemia type 1, OMIM
Extensive review of the literature, including clinical features and gene therapy, from the Online Mendelian Inheritance in Man site, hosted by Johns Hopkins University, providing technical information for providers on genetic disorders, links to MEDLINE, and links to other scientific information and sites.

For Parents

Glutaric acidemia type 1 info for parents, STAR-G
From the Screening, Technology and Research in Genetics (STAR-G) site, providing information for parents about glutaric acidemia and links to other sites including parent support groups.

The International Organization of Glutaric Acidemia
A non-profit organization, provides information for parents and the public; newsletters; event information; a message board area; and links to other sites.

Glutaric acidemia type 1, Genetics Home Reference
Excellent, detailed review aimed at patients and families from the National Library of Medicine's Genetics Home Reference site.

Services

Newborn Screening Programs

Utah Newborn Screening Program, more info...
44 Mario Capecchi Drive
Salt Lake City, UT84114
Phone: 801-584-8256
Fax: 801-536-0966
http://health.utah.gov/newbornscreening

Pediatric Genetics

Metabolic Clinic, more info...
100 Mario Capecchi Drive
Salt Lake City, UT84113
Phone: 801-585-2457
Fax: 585-7252
http://www.ped.med.utah.edu/divisions/divisions.htm

See all Pediatric Genetics services providers (3) in our database.

For other services related to this condition, browse our Services categories or search our database.

Helpful Articles

PubMed search for articles on glutaric acidemia type 1 in the last 5 years.

Authors

Reviewing Author: Nicola Longo MD, PhD, 3/2007
Compiled and edited by: Alfred Romeo RN, PhD, 3/2007
Content Last Updated: 3/2008

Page Bibliography

American Academy of Pediatrics.
Newborn screening fact sheets. American Academy of Pediatrics. Committee on Genetics.
Pediatrics. 1996;98(3 Pt 1):473-501. PubMed abstract
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