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Hartnup Surname of British family in which the disease was first described.
See: Hartnup disease, syndrome.
(05 Mar 2000)
Hartnup disease <biochemistry> Amino acid transport defect that leads to excessive loss of monoamino monocarboxylic acids (cystine, lysine, ornithine, arginine) in the urine and poor absorption in the gut.
See: iminoglycinuria.
(18 Nov 1997)
Hartnup disorder <biochemistry> Amino acid transport defect that leads to excessive loss of monoamino monocarboxylic acids (cystine, lysine, ornithine, arginine) in the urine and poor absorption in the gut.
See: iminoglycinuria.
(18 Nov 1997)
Hartnup syndrome <biochemistry> Amino acid transport defect that leads to excessive loss of monoamino monocarboxylic acids (cystine, lysine, ornithine, arginine) in the urine and poor absorption in the gut.
See: iminoglycinuria.
(18 Nov 1997)
MeSH(Medical Subject Headings) ¸ÂÃã °Ë»ö (http://www.nlm.nih.gov) °á°ú : 1 ÆäÀÌÁö: 1
  • Hartnup Disease - »õâ 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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Hartnup d. an inborn error of metabolism characterized by cerebellar ataxia, a pellagra-like condition of the skin, and massive aminoaciduria involving a group of neutral monoaminomonocarboxylic amino acids sharing a common renal reabsorption mechanism.
Ãâó: www.mercksource.com/pp/us/cns/cns_health_library.j...
Hartnup disease see under disease.
Ãâó: www.mercksource.com/pp/us/cns/cns_health_library.j...
Hartnup s. see under disease.
Ãâó: www.mercksource.com/pp/us/cns/cns_health_library.j...
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