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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What is the cause of aciduria?
Organic acidurias are a large group of mostly autosomal recessive disorders caused by mutations in genes encoding enzymes involved in amino acid catabolism, leading to toxic accumulation of organic acids. Organic acidurias have high concentrations of characteristic organic acids in the urine.
What is the difference between aciduria and acidemia?
Organic acidemias, also known as organic acidurias, are a class of inborn errors of metabolism characterized by accumulation of abnormal (and usually toxic) organic acid metabolites and increased excretion of organic acids in urine.
How do you treat aciduria?
Metabolic treatment consists of a low lysine diet with supplementation of a lysine-free, tryptophane-reduced and arginine-fortified amino acid supplement and oral carnitine supplementation as well as intermittent emergency treatment during episodes that are likely to induce catabolism, such as fever.
What is aciduria in medical terminology?
Title: Aciduria Definition: Excretion of urine with an acid pH, i.e., having an increased hydrogen ion concentration.
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 ...
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Glutaric aciduria type I (GA1) is a rare hereditary metabolic disorder caused by a deficiency of the mitochondrial enzyme glutaryl-CoA dehydrogenase (GCDH). It ...
Glutaric aciduria type I (synonym, glutaric acidemia type I) is an autosomal recessive disease caused by inherited deficiency of glutaryl-CoA dehydrogenase ( ...
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Disease Overview. Summary. Argininosuccinic aciduria is a rare genetic disorder characterized by deficiency or lack of the enzyme argininosuccinate lyase (ASL).
Glutaric aciduria type 2 is a rare inborn disease of fatty acid metabolism. The clinical manifestation of this disease is heterogeneous and ranges from ...
