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Hartnup´s Syndrome

definition

Rare hereditary recessive disorder characterized by a pellagrous rash, cerebellar ataxia, mental retardation and renal aminoaciduria due to a defect in the cellular transport of neutral amino acids. The cutaneous signs precede the neurological manifestations. The rash is dry, scaly and well marginated, affecting the light-exposed areas. After exposure to sunlight the skin reddens and an exsudate may occur.

synonyms

Hartnup´s Syndrome

UMLS

Disease, H, Disease, Hartnup, H DISEASE, HART SYNDROME, Hartnup Disease, Hartnup disorder, Neutral 1 amino acid transport defect, Neutral amino acid transport defect, Neutral aminoacid transp def, PELLAGRA-CEREBELLAR ATAXIA-RENAL AMINOACIDURIA SYNDROME, Pellagra-cerebellar-ataxia-renal aminoaciduria syndrome, Syndrome, Hart's, Syndrome, pellagra-cerebellar ataxia-renal aminoaciduria, TRYPTOPHAN PYRROLASE DEFICIENCY

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