MeSH(Medical Subject Headings) 맞춤 검색 (http://www.nlm.nih.gov) 결과 : 1 페이지: 1
Hartnup Disease - 새창
An autosomal recessive disorder due to defective absorption of NEUTRAL AMINO ACIDS by both the intestine and the PROXIMAL RENAL TUBULES. The abnormal urinary loss of TRYPTOPHAN, a precursor of NIACIN, leads to a NICOTINAMIDE deficiency, PELLAGRA-like light-sensitive rash, CEREBELLAR ATAXIA, emotional instability, and aminoaciduria. Mutations involve the neurotransmitter transporter gene SLC6A19.
Synonyms : Neutral Amino Acid Transport Defect, Transport Disorder, Neutral Amino Acids
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MeSH(Medical Subject Headings) 유사 검색 (http://www.nlm.nih.gov) 결과 : 0 페이지: 1
