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http://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=3034

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]

Diagnosis and symptoms[edit]

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[edit]

Histidinemia has an autosomal recessive pattern of inheritance.

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

References[edit]

^ ^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.{{cite journal}}: CS1 maint: multiple names: authors list (link)
^ 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. doi:10.1007/s00439-004-1232-5. PMID 15806399.{{cite journal}}: CS1 maint: multiple names: authors list (link)

Category:Amino acid metabolism disorders Category:Autosomal recessive disorders

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[hh-1] Taylor RG, Levi HL, McInnes RR (1991). "Histidase and histidinemia. Clinical and molecular considerations". Mol Bio Med. 8 (1): 101–116. PMID 1943682.{{cite journal}}: CS1 maint: multiple names: authors list (link)

[jah-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. doi:10.1007/s00439-004-1232-5. PMID 15806399.{{cite journal}}: CS1 maint: multiple names: authors list (link)

[1]

[2]

Diagnosis and symptoms[edit]

Prevalence[edit]

See also[edit]

References[edit]