| Entry |
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| Name |
Histidinemia |
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| Description |
Histidinemia is an autosomal recessive disorder resulting from histidase deficiency.
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| Category |
Inherited metabolic disorder
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| Brite |
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C50 Inborn errors of amino acid or other organic acid metabolism
H00171 Histidinemia
Pathway-based classification of diseases [BR:br08402]
Amino acid metabolism
nt06037 Histidine metabolism
H00171 Histidinemia
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| Pathway |
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| Network |
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| Gene |
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| Other DBs |
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| Reference |
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| Authors |
Kawai Y, Moriyama A, Asai K, Coleman-Campbell CM, Sumi S, Morishita H, Suchi M |
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| Title |
Molecular characterization of histidinemia: identification of four missense mutations in the histidase gene. |
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| Journal |
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| Reference |
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| Authors |
Virmani K, Widhalm K |
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| Title |
Histidinemia: a biochemical variant or a disease? |
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| Journal |
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| Reference |
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| Authors |
Taylor RG, Levy HL, McInnes RR |
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| Title |
Histidase and histidinemia. Clinical and molecular considerations. |
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| Journal |
Mol Biol Med 8:101-16 (1991) |
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| LinkDB |
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