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Glutaric Acidemia Type 1 - GeneReviews® - NCBI Bookshelf
WEBSep 19, 2019 · 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).
Ncbi.nlm.nih.govGlutaric Aciduria Type I - Symptoms, Causes, Treatment | NORD
WEBAug 24, 2023 · Learn about Glutaric Aciduria Type I, including symptoms, causes, and treatments. If you or a loved one is affected by this condition, visit NORD to find.
Rarediseases.orgGlutaric aciduria type 1: Diagnosis, clinical features and long‐term
WEBJun 14, 2022 · glutaric aciduria type 1 (GA1, OMIM#231670) is a rare neurometabolic disorder of lysine, hydroxylysine and tryptophan metabolism caused by profound deficiency of the mitochondrial enzyme, glutaryl‐CoA dehydrogenase (GCDH; …
Ncbi.nlm.nih.govGlutaric aciduria type 1 - Wikipedia
WEBGlutaric acidemia type 1 (GA1) is an inherited disorder in which the body is unable to completely break down the amino acids lysine, hydroxylysine and tryptophan.
En.wikipedia.orgDiagnosis and management of glutaric aciduria type I – revised
WEBMar 23, 2011 · Glutaric aciduria type I (synonym, glutaric acidemia type I) is a rare organic aciduria. Untreated patients characteristically develop dystonia during infancy resulting in a high morbidity and mortality.
Ncbi.nlm.nih.govGlutaric acidemia type I - MedlinePlus
WEBGlutaric acidemia type I (also called glutaric aciduria type I) is an inherited disorder in which the body is unable to process certain proteins properly. Explore symptoms, inheritance, genetics of this condition.
Medlineplus.govGlutaric aciduria type 1 - NHS
WEBglutaric aciduria type 1 (GA1) is a rare but serious inherited condition. It means the body can’t process certain amino acids, causing a harmful build-up of substances in the blood and urine.
Nhs.ukWhat is glutaric aciduria type 1? - Medical News Today
WEBOct 20, 2023 · glutaric aciduria type 1 (GA1) is an inherited metabolic disorder. It results from an enzyme deficiency that prevents the body from breaking down some amino acids. This causes a buildup of
Medicalnewstoday.comRecommendations for diagnosing and managing individuals with glutaric
WEBglutaric aciduria type 1 is a rare inherited neurometabolic disorder of lysine metabolism caused by pathogenic gene variations in GCDH (cytogenic location: 19p13.13), resulting in deficiency of mitochondrial glutaryl-CoA dehydrogenase (GCDH) and, consequently, accumulation of glutaric acid, 3-hydrox …
Pubmed.ncbi.nlm.nih.govGlutaric aciduria type 1: Diagnosis, clinical features and long‐term
WEBglutaric aciduria type 1 (GA1) is a rare neurometabolic disorder that can lead to encephalopathic crises and severe dystonic movement disorders.
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