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24 Αυγ 2023 · Glutaric aciduria type I (GA1) is a rare hereditary metabolic disorder caused by a deficiency of the mitochondrial enzyme glutaryl-CoA dehydrogenase (GCDH). It is in the group of disorders known as cerebral organic acidemias. Individuals with this condition have deficiency or absence of GCDH enzyme that is involved in the lysine metabolism.
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GA1 is an autosomal recessive disorder caused by deficiency of the enzyme glutaryl-CoA dehydrogenase (GCDH), encoded by the GCDH gene. Signs and symptoms. The severity of glutaric acidemia type 1 varies widely; some individuals are only mildly affected, while others suffer severe problems.
19 Σεπ 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).
23 Μαρ 2011 · Glutaric aciduria type I (synonym, glutaric acidemia type I) is an autosomal recessive disease caused by inherited deficiency of glutaryl-CoA dehydrogenase (GCDH, EC 1.3.99.7). It has an estimated prevalence of 1 in 100,000 newborns (Lindner et al. 2004 ).
Glutaric aciduria type 1 (GA1) is a rare but serious inherited condition. It means the body can't process certain amino acids ("building blocks" of protein), causing a harmful build-up of substances in the blood and urine.
Glutaric 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.
14 Ιουν 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; EC number: 1.3.99.7).
