Glutaric acidemia type I
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Age of Onset
Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease
Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype
X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder
Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Other Names (AKA)
Glutaric acidemia type 1; Glutaric acidemia 1; Glutaric aciduria 1;
Congenital and Genetic Diseases; Metabolic disorders; Nervous System Diseases;
Glutaric acidemia type I (GA1) is a genetic
Without treatment, newborns with GA1 may at first not have any symptoms other than possibly having a slightly large head. Some, however, may have weak muscles and early signs of
Many newborns with GA1 have a large head circumference (macrocephaly), but may not have any other symptom. About half will have weak muscle tone (
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
|30%-79% of people have these symptoms|
|Abnormal putamen morphology||0031982|
Involuntary writhing movements in fingers, hands, toes, and feet
Difficulty articulating speech
[ more ]
[ more ]
|Poor motor coordination||0002275|
Progressively abnormally enlarging cranium
Progressively abnormally enlarging skull
[ more ]
|T2 hypointense basal ganglia||0012753|
|Widened subarachnoid space||0012704|
|5%-29% of people have these symptoms|
|Abnormality of the cerebral white matter||0002500|
|Abnormality of the respiratory system||0002086|
[ more ]
Loss of developmental milestones
Mental deterioration in childhood
[ more ]
Decreased ability to exercise
Inability to exercise
[ more ]
Low blood sugar when fasting
Recurrent joint dislocations
[ more ]
|Loss of consciousness||
|Severe muscular hypotonia||
Severely decreased muscle tone
|1%-4% of people have these symptoms|
|Percent of people who have these symptoms is not available through HPO|
|Dilation of lateral ventricles||0006956|
|Elevated circulating glutaric acid concentration||0003530|
|Failure to thrive||
[ more ]
Decreased muscle tone
Low muscle tone
[ more ]
Increased level of ketone bodies in blood
Low blood sugar
Increased size of skull
Large head circumference
[ more ]
Low or weak muscle tone
|Symmetrical progressive peripheral demyelination||0006873|
- An ACTion (ACT) sheet is available for this condition that describes the short-term actions a health professional should follow when an infant has a positive
newborn screeningresult. ACT sheets were developed by experts in collaboration with the American College of Medical Genetics.
- An Algorithm flowchart is available for this condition for determining the final diagnosis in an infant with a positive newborn
screeningresult. Algorithms are developed by experts in collaboration with the American College of Medical Genetics.
- Baby's First Test is the nation's newborn screening education center for families and providers. This site provides information and resources about screening at the local, state, and national levels and serves as the Clearinghouse for newborn screening information.
- The Newborn Screening Coding and Terminology Guide has information on the standard codes used for newborn screening tests. Using these standards helps compare data across different laboratories. This resource was created by the National Library of Medicine.
- National Newborn Screening and Global Resource Center (NNSGRC) provides information and resources in the area of newborn screening and genetics to benefit health professionals, the public health community, consumers and government officials.
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
- Orphanet Emergency Guidelines is an article which is expert-authored and peer-reviewed that is intended to guide health care professionals in emergency situations involving this condition.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
GDD is often misdiagnosed. Differential diagnosis includes encephalitis, Reye's syndrome, familial infantile bilateral striatal necrosis, familial megalencephaly, postencephalitic Parkinsonism (see these terms), dystonic cerebral palsy, battered child syndrome with chronic subdural effusions, sudden infant death syndrome and vaccine induced brain-injury.
Visit the Orphanet disease page for more information.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
- Genetics Home Reference (GHR) contains information on Glutaric acidemia type I. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- The Screening, Technology And Research in Genetics (STAR-G) Project has a fact sheet on this condition, which was written specifically for families that have received a diagnosis as a result of newborn screening. This fact sheet provides general information about the condition and answers questions that are of particular concern to parents.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Glutaric acidemia type I. Click on the link to view a sample search on this topic.
- Boy N, Mühlhausen C, Maier EM, et al. Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision. J Inherit Metab Dis. January 2017; 40(1):75-101. https://www.ncbi.nlm.nih.gov/pubmed/27853989.
- Mosaeilhy A, Mohamed MM, C GP, El Abd HS, Gamal R, Zaki OK, Zayed H. Genotype-phenotype correlation in 18 Egyptian patients with glutaric acidemia type I. Metab Brain Dis. April 7 2017; [Epub ahead of print]:https://www.ncbi.nlm.nih.gov/pubmed/28389991.
- Glutaric acidemia type I. Genetics Home Reference (GHR). March, 2007; https://www.ghr.nlm.nih.gov/condition/glutaric-acidemia-type-i.