inborn error of metabolism

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Related to inborn error of metabolism: metabolic disorder, phenylketonuria
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PKU is an inborn error of metabolism that can lead to severe learning disability if it is not treated.
PKU is an inborn error of metabolism characterized by the lack of the phenylalanine dehydrogenase enzyme.
An inborn error of metabolism, trimethylaminurea, causes them to smell like rotting fish when they eat high-choline foods.
4-Hydroxybutyric aciduria: A new inborn error of metabolism II: Biochemical findings, Journal of Inherited Metabolic Disease (1984) 7 Suppl 1: 92-94.
Hereditary tyrosinemia is a genetic inborn error of metabolism associated with severe liver disease in infancy.
The untargeted metabolomic analysis of serum, urine, liver and testes collected from EGME-treated rats revealed biochemical profiles similar to biochemical signatures observed in humans with multiple acyl-CoA dehydrogenase deficiency (MADD), an inborn error of metabolism.
The proceeds from the series B are expected to be used to advance Homology's lead development candidate that is currently in preclinical IND-enabling studies for an inborn error of metabolism disease.
Niketh was suffering from an inborn error of metabolism resulting in recurrent crises and requiring treatment at a hospital.