Cases reported "Hartnup Disease"

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1/2. acrodermatitis enteropathica-like eruptions in a child with hartnup disease.

    acrodermatitis enteropathica-like eruptions, not related to zinc deficiency, have been rarely reported in some metabolic disorders. Reported patients usually had low levels of essential amino acids, particularly isoleucine. Here we report a girl who first presented with an acrodermatitis enteropathica-like eruption and eventually had the diagnosis of hartnup disease with a normal isoleucine level. We discuss the probable cause of her skin lesions and the differential diagnosis with pellagra.
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keywords = metabolic disorder
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2/2. Occurrences of methylmalonic aciduria and Hartnup disorder in the same family.

    Methylmalonic aciduria and Hartnup disorder are two rare autosomal recessively inherited metabolic disorders. We have described the coexistence of these disorders within the same pedigree in two unrelated families. This association was not found in 57 other families surveyed because of a proband known to have either methylmalonic aciduria or Hartnup disorder.
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keywords = metabolic disorder
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