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. Normally, our bodies break down protein foods like meat and fish into amino acids.
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The organic acidemias (or organic acidurias) are disorders characterized by the urinary excretion of nonamino organic acids, which result from the abnormal ...
Organic acidemias or acidurias are hereditary disorders, which are characterized by the accumulation of excessive amounts of low-molecular-weight organic acids ...
Glutaric aciduria type I (GA1) is a rare hereditary metabolic disorder caused by a deficiency of the mitochondrial enzyme glutaryl-CoA dehydrogenase (GCDH). It ...
Jun 26, 2024 · INTRODUCTION. Organic acidemias, also known as organic acidurias, are a class of inborn errors of metabolism characterized by accumulation ...
Sep 1, 2019 · 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.
Glutaric aciduria type 2 is a rare inborn disease of fatty acid metabolism. The clinical manifestation of this disease is heterogeneous and ranges from ...
Diagnosis is established on the basis of excess D-2-hydroxyglutaric acid in the urine and MRI findings: subependymal cysts, delayed cerebral maturation, and ...
Sep 17, 2019 · GAII is an autosomal recessive genetic disorder caused by mutations in the ETFA, ETFB, or ETFDH genes. Treatment varies depending on the ...
Glutaric aciduria type I (synonym, glutaric acidemia type I) is an autosomal recessive disease caused by inherited deficiency of glutaryl-CoA dehydrogenase ( ...