Disease or Syndrome
valinemia
Definitions related to valinemia:
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Valinemia is an inborn error of metabolism characterized clinically by vomiting, feeding difficulties, hypotonia, and developmental delay, and biochemically by high concentrations of valine in serum and urine (Wada, 1965). (OMIM)Online Mendelian Inheritance in ManJohns Hopkins University, 2021
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(hypervalinemia) An increased concentration of valine in the blood.Human Phenotype Ontology (HPO)The Human Phenotype Ontology Project, 2021
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Valinemia is a very rare metabolic disorder characterized by abnormally high levels of the amino acid valine in the blood and urine. Infants with valinemia reportedly experience lack of appetite, vomiting, and failure to thrive. In some cases, the condition may be life-threatening. Low muscle tone (hypotonia), excessive drowsiness,...National Center for Advancing Translational Sciences
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