Organic acidurias are a large group of mostly autosomal recessive disorders caused by mutations in genes encoding enzymes involved in amino acid catabolism.
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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)
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).
The meaning of ACIDURIA is the condition of having acid in the urine especially in abnormal amounts.
Mar 1, 2020 · Argininosuccinic aciduria is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in ...
3-Hydroxyisobutyric aciduria is a rare metabolic condition in which the body is unable to breakdown certain amino acids (the building blocks of protein).
Glutaric aciduria type I is an autosomal recessive disorder resulting from a deficiency of glutaryl-CoA dehydrogenase.
A rare, severe form of mevalonate kinase deficiency (MKD) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, ...
Aug 1, 2013 · 2-hydroxyglutaric aciduria is a condition that causes progressive damage to the brain. The major types of this disorder are called D-2-hydroxyglutaric aciduria ...