Cellular transport of l-histidine in Hartnup disease
نویسندگان
چکیده
منابع مشابه
Cellular transport of L-histidine in Hartnup disease.
The urinary excretion, the intestinal absorption, and the elimination of histidine from blood were studied in two patients with Hartnup disease. On standard diet the patients lost a great proportion of the dietary histidine in the urine, whereas the fecal loss was negligible. A high oral dose of L-histidine gave only a slight increase in plasma histidine and no increase in fecal histidine, but ...
متن کاملNatural history of Hartnup disease.
Hartnup disease was diagnosed in 12 children and 3 of their 15 sibs in the course of routine urine screening of 6-week-old infants in New South Wales. These children were followed for up to 8 years, during which time there were only two clinical episodes which might be ascribed to Hartnup disease. The mental development of all the children was normal. 10 had height centiles less than the midpar...
متن کاملA case of Hartnup disease.
This new disease was first described last year by Dr. Hart and Professor Dent and their colleagues (Baron, Dent, Harris, Hart and Jepson, 1956) under the title 'Hereditary pellagra-like skin rash with temporary cerebellar ataxia, constant aminoaciduria, and other bizarre biochemical features'. The name 'Hartnup disease'-after the family then described-was later used in a reference to the syndro...
متن کاملHartnup Disease Masked by Kwashiorkor
This report describes an 11-month old girl with Hartnup disease presenting with kwashiorkor and acrodermatitis enteropathica-like skin lesions but free of other clinical findings. This case with kwashiorkor had acrodermatitis enteropathica-like desquamative skin eruption. Since zinc level was in the normal range, investigation for a metabolic disorder was considered, and Hartnup disease was dia...
متن کاملCircumvention of defective neutral amino acid transport in Hartnup disease using tryptophan ethyl ester.
Tryptophan ethyl ester, a lipid-soluble tryptophan derivative, was used to bypass defective gastrointestinal neutral amino acid transport in a child with Hartnup disease. The child's baseline tryptophan concentrations in serum (20 +/- 6 microM) and cerebrospinal fluid (1.0 +/- 0.2 microM) were persistently less than 50% of normal values. Cerebrospinal fluid 5-hydroxyindoleacetic acid (5-HIAA), ...
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ژورنال
عنوان ژورنال: Journal of Clinical Investigation
سال: 1969
ISSN: 0021-9738
DOI: 10.1172/jci106121