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Summary
HYPERVALINEMIA
VALINEMIA
277100
OMIM = Online Medalian Inheritance of Men
unknown
  • low-valine diet
rare
autosomal recessive
symptoms
Amino acids, plasma
Amino acids, urine
behavior, hyperactive, restless
failure to thrive
growth retardation
lethargy, drowsiness, malaise or sleep disorder
mental retardation
muscle weakness
vomiting
laboratory finding
Valine500.001500.0086.00190.00-Ámol/lplasma
Valine0.001800.003.0026.00+Ôé¼mol/24hurinenewborn
Literature
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Felbora Uet al.Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase geneBr J Ophthalmol830680-6831999
Weber TA,Antognetti MR, Stacpoole PWCaveats when considering ketogenic diets for the treatment of pyruvate dehydrogenase complex deficiencyJ Pediatr1380390-3952001
Herrmann WGeisel JVegetarian lifestyle and monitoring of vitamin B-12 statusClin Chim Acta326047-592002
Phornphutkul Cet al.Natural history of alkaptonuriaN Engl J Med34702111-21212002