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Histidinuria: defective transport of histidine.
Nyhan, W L; Hilton, S.
Affiliation
  • Nyhan WL; Department of Pediatrics, University of California, San Diego, La Jolla 92093-0609.
Am J Med Genet ; 44(5): 558-61, 1992 Nov 15.
Article in En | MEDLINE | ID: mdl-1481808
A-7-year-old boy was found to have histidinuria without histidinemia. Low concentrations of histidine in plasma were consistent with impaired intestinal and renal tubular absorption of histidine. The patient was developmentally delayed and had some minor anomalies. Only 4 other patients in 3 families have been reported. Each had abnormality of the central nervous system. All were male.
Subject(s)
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Collection: 01-internacional Database: MEDLINE Main subject: Histidine / Malabsorption Syndromes Limits: Child / Humans / Male Language: En Journal: Am J Med Genet Year: 1992 Document type: Article Country of publication: United States
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Collection: 01-internacional Database: MEDLINE Main subject: Histidine / Malabsorption Syndromes Limits: Child / Humans / Male Language: En Journal: Am J Med Genet Year: 1992 Document type: Article Country of publication: United States