Natural history of Hartnup disease.

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Natural 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...

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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...

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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...

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ژورنال

عنوان ژورنال: Archives of Disease in Childhood

سال: 1977

ISSN: 0003-9888,1468-2044

DOI: 10.1136/adc.52.1.38