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.
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Causes of acid urine include ingestion of meat, respiratory and metabolic acidosis, severe vomiting with chloride depletion, severe diarrhea, starvation, ...
Glutaric aciduria type I (GA1) is a rare hereditary metabolic disorder caused by a deficiency of the mitochondrial enzyme glutaryl-CoA dehydrogenase (GCDH). It ...
Mar 1, 2020 · Causes. Mutations in the ASL gene cause argininosuccinic aciduria. This condition belongs to a class of genetic diseases called urea cycle ...
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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)
Urocanic aciduria | About the Disease | GARD
rarediseases.info.nih.gov › diseases › urocanic-aciduria
Urocanic aciduria is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their ...
Aug 1, 2013 · Causes. The different types of 2-hydroxyglutaric aciduria result from mutations in several genes. D-2-HGA type I is caused by mutations in the ...
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 is caused by inherited deficiency of glutaryl-CoA dehydrogenase which is involved in the catabolic pathways of L-lysine, L- ...
