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Histidinemia



Histidinemia
Classification & external resources
Histidine
ICD-10 E70.8
ICD-9 270.5
OMIM 235800
DiseasesDB 29669

Histidinemia, also referred to as histidinuria, is a rare autosomal recessive metabolic disorder caused by a deficiency of the enzyme histidase. Histidase is needed for the metabolism of the amino acid histidine.[1]

Additional recommended knowledge

Contents

Diagnosis and symptoms

Histidenemia is characterized by increased levels of histidine, histamine and imidazole in blood, urine and cerebrospinal fluid. This also results in decreased levels of the metabolite urocanic acid in blood, urine, and skin cells.[1]

Though it may remain asymptomatic for a few years, symptoms will usually present by early childhood. Common symptoms include hyperactivity, speech impediment, developmental delay, learning difficulties, and sometimes mental retardation.

Prevalence

 

Histidinemia is a somewhat rare disorder. However, in Japan, it is the single most prevalent inborn error of metabolism.[2]

See also

References

  1. ^ a b Taylor RG, Levi HL, McInnes RR (1991). "Histidase and histidinemia. Clinical and molecular considerations". Mol Bio Med. 8 (1): 101-116. PMID 1943682.
  2. ^ Kawai Y, Moriyama A, Asai K, Coleman-Campbell CM, Morishita H, Suchi M (2005). "Molecular characterization of histidinemia: identification of four missense mutations in the histidase gene". Hum Genet. 116 (5): 340-346. PMID 15806399.



 
This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Histidinemia". A list of authors is available in Wikipedia.
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