Caption = Valine
DiseasesDB =
ICD10 =
ICD9 = ICD9|270.3
OMIM = 277100
MedlinePlus =
eMedicineSubj =
eMedicineTopic =
MeshID =

Hypervalinemia (occasionally called valinemia) is a rare autosomal recessive metabolic disorder in which urinary and serum levels of the branched-chain amino acid valine are elevated, without related elevation of the branched-chain amino acids leucine and isoleucine. It is caused by a deficiency of the enzyme valine transaminase.

Presenting in infancy, symptoms include lack of appetite, vomiting, dehydration, hypotonia and failure to thrive.

ee also

*Isovaleric acidemia
*Maple syrup urine disease
*Propionic acidemia



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  • hypervalinemia — hypervalinemia. См. гипервалинемия. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) …   Молекулярная биология и генетика. Толковый словарь.

  • hypervalinemia — Abnormally high plasma concentrations of valine, a common finding in maple syrup urine disease. * * * hy·per·val·i·ne·mia (hi″pər val″ĭ neґme ə) 1. an autosomal recessive aminoacidopathy, due to a defect in valine… …   Medical dictionary

  • гипервалинемия — hypervalinemia гипервалинемия. НЗЧ, характеризующееся нарушением обмена валина, ведущее к психическим расстройствам; наследуется по аутосомно рецессивному типу. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А.,… …   Молекулярная биология и генетика. Толковый словарь.

  • maple syrup urine disease — ▪ pathology       inherited metabolic disorder involving leucine, isoleucine, and valine (a group of branch chain amino acids). Normally, these amino acids are metabolized, step by step, by a number of enzymes, each of which is specific for each… …   Universalium

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