Hypervalinemia

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Hypervalinemia Classification and external resources
Valine
ICD-9	270.3
OMIM	277100

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.

See also

• Isovaleric acidemia
• Maple syrup urine disease
• Propionic acidemia

References

• Dancis J, Hutzler J, Tada K, Wada Y, Morikawa T, Arakawa T (1967). "Hypervalinemia. A defect in valine transamination". Pediatrics 39 (6): 813–817. PMID 6067402.
• Tada K, Wada Y, Arakawa T (1967). "Hypervalinemia. Its metabolic lesion and therapeutic approach". Am. J. Dis. Child. 113 (1): 64–67. PMID 6066688.
• Wada Y, Tada K, Minagawa A, Yoshida T, Morikawa T, Okamura T (1963). "Idiopathic hypervalinemia: probably a new entity of inborn error of valine metabolism". Tohoku J. Exp. Med. 81: 46–55. PMID 14077060.

v • d • e Inborn errors of amino acid metabolism (E70-72, 270)
K	Lysine/straight chain Glutaric acidemia type 1 - type 2 - Hyperlysinemia - Pipecolic acidemia - Saccharopinuria Leucine Maple syrup urine disease - Isovaleric acidemia - 3-Methylcrotonyl-CoA carboxylase deficiency - 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
G→pyruvate	Glycine Sarcosinemia - D-Glyceric acidemia - Glutathione synthetase deficiency
G→alpha-ketoglutarate	Glutamate/glutamine SSADHD Proline Hyperprolinemia - Prolidase deficiency Histidine Carnosinemia - Histidinemia - Urocanic aciduria
G→succinyl-CoA	Methionine Hypermethioninemia - Homocystinuria - Cystathioninuria Valine Maple syrup urine disease - Hypervalinemia - Isobutyryl-CoA dehydrogenase deficiency Isoleucine Maple syrup urine disease - Beta-ketothiolase deficiency - 2-Methylbutyryl-CoA dehydrogenase deficiency General BC/OA Propionic acidemia - Methylmalonic acidemia
G→fumarate	Phenylalanine/tyrosine Phenylketonuria - Alkaptonuria - Ochronosis - Tyrosinemia (Hawkinsinuria) Tetrahydrobiopterin deficiency
G→oxaloacetate	Urea cycle/Hyperammonemia (arginine, aspartate) N-Acetylglutamate synthase deficiency - Carbamoyl phosphate synthetase I deficiency - Ornithine transcarbamylase deficiency/translocase deficiency - Citrullinemia - Argininosuccinic aciduria - Argininemia
Transport	Cystinuria - Hartnup disease - Oculocerebrorenal syndrome - Lysinuric protein intolerance - Inborn errors of renal tubular transport (Cystinosis, Fanconi syndrome)
Tyrosine→Melanin	Albinism: Ocular albinism - Oculocutaneous albinism (Hermansky-Pudlak syndrome) - Waardenburg syndrome
Glycine→Creatine	GAMT deficiency
Other	Trimethylaminuria - 2-Hydroxyglutaric aciduria - Fumarase deficiency
see also Amino acid metabolism enzymes, Urea cycle enzymes, intermediates