Initial symptoms/signs may include:
- Failure to thrive
- Metabolic ketoacidosis
- Dystonia and athetosis.
- Contact the family immediately and evaluate the infant macrocephaly and hypotonia.
- To confirm the diagnosis, work with the following service(s): see all Newborn Screening Programs services providers (3) in our database.
- For evaluation and ongoing collaborative management, consult the following service(s): Pediatric Medical Genetics, (801-213-3599); See also Services below.
- Educate the family regarding signs, symptoms, and the need for urgent care when the infant becomes ill (see Glutaric Acidemia Type 1 - Information for Parents (STAR-G) for additional information).
- Support initiation and maintenance of low lysine, low tryptophan diet.
- Glucose, intralipids, 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.
Glutaric Acidemia Type 1 - Information for Professionals (STAR-G)
Structured list of information about the condition and links to more information; Screening, Technology, and Research in Genetics.
Glutaric Acidemia Type 1 (OMIM)
Extensive review of literature that provides technical information on genetic disorders; Online Mendelian Inheritance in Man site, hosted by Johns Hopkins University.
Genetics in Primary Care Institute (AAP)
The goal of this site is to increase collaboration in the care of children with known or suspected genetic disorders. It includes health supervision guidelines and other useful resources; represents a collaboration among the Health Resources & Services Administration, the Maternal and Child Health Bureau, and the American Academy of Pediatrics.
Glutaric Acidemia Type 1 - Information for Parents (STAR-G)
A fact sheet, written by a genetic counselor and reviewed by metabolic and genetic specialists, for families who have received an initial diagnosis of this newborn disorder; Screening, Technology and Research in Genetics.
Organic Acidemia Association (OAA)
A volunteer non-profit organization whose mission is to empower families and health care professionals with knowledge in organic acidemia metabolic disorders.
Resources for Glutaric Acidemia Type 1 (Disease InfoSearch)
Compilation of information, articles, research, case studies, and genetics links; from Genetic Alliance.
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 of condition for patients and families; sponsored by the U.S. National Library of Medicine.
ACT Sheet for Glutaric Aciduria Type 1 (ACMG) ( 346 KB)
Contains short-term recommendations for clinical follow-up of the newborn who has screened positive; American College of Medical Genetics.
See all Newborn Screening Programs services providers (3) in our database.
See all Pediatric Genetics services providers (5) in our database.
For other services related to this condition, browse our Services categories or search our database.
|Content Last Updated:||7/2012|
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
Hedlund GL, Longo N, Pasquali M.
Glutaric acidemia type 1.
Am J Med Genet C Semin Med Genet. 2006;142C(2):86-94. PubMed abstract / Full Text
Glutaric acidemias (GA) comprise different disorders resulting in an increased urinary excretion of glutaric acid. Early diagnosis and therapy reduce the risk of acute dystonia in patients with GA-1.