inborn error of metabolism


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Related to inborn error of metabolism: metabolic disorder, phenylketonuria
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Methylmalonic aciduria: an inborn error of metabolism leading to chronic metabolic acidosis.
R-Ureidopropionase deficiency: a novel inborn error of metabolism discovered using NMR spectroscopy on urine.
Tyrosinemia is a genetic inborn error of metabolism, involving the amino acid tyrosine and is associated with a lack of the enzyme Fumarylacetoacetate Hydrolase (FAH).
Another autosomal recessive inborn error of metabolism is 3-hydroxy-3-methylglutaryl CoA (HMG-CoA) lyase deficiency (HMGCLD; OMIM 246450).
It could correct, for example, an inborn error of metabolism for a condition such as hemophilia.
A urea cycle disorder is an inherited, inborn error of metabolism present in an estimated 1 in 10,000 live births in the U.