| Descriptor English: | Hartnup Disease | ||||||
| Descriptor Spanish: |
Enfermedad de Hartnup
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| Descriptor Portuguese: | Doença de Hartnup | ||||||
| Descriptor French: | Maladie de Hartnup | ||||||
| Entry term(s): |
Amino Acid Transport Disorder, Neutral Hartnup Disorder Neutral Amino Acid Transport Defect Neutral Amino Acid Transport Disorder Transport Disorder, Neutral Amino Acid Transport Disorder, Neutral Amino Acids |
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| Tree number(s): |
C10.228.140.163.100.355 C12.050.351.968.419.815.885.625 C12.200.777.419.815.885.457 C12.950.419.815.885.625 C16.320.565.151.355 C16.320.565.189.355 C16.320.831.885.457 C18.452.132.100.355 C18.452.648.151.355 C18.452.648.189.355 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D006250 | ||||||
| Scope note: | 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. |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Public MeSH Note: | 1965 |
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| History Note: | 1965 |
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| Entry Version: | HARTNUP DIS |
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| DeCS ID: | 6402 | ||||||
| Unique ID: | D006250 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 1965/01/01 | ||||||
| Date of Entry: | 1999/01/01 | ||||||
| Revision Date: | 2012/07/03 |
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Hartnup Disease
- Preferred
| Concept UI |
M0009808 |
| Scope note | 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. |
| Preferred term | Hartnup Disease |
| Entry term(s) |
Amino Acid Transport Disorder, Neutral Hartnup Disorder Neutral Amino Acid Transport Defect Neutral Amino Acid Transport Disorder Transport Disorder, Neutral Amino Acid Transport Disorder, Neutral Amino Acids |
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