Search on: HARTNUP DISEASE 
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Descriptor English:   Hartnup Disease 
Descriptor Spanish:   Enfermedad de Hartnup 
Descriptor Portuguese:   Doença de Hartnup 
Synonyms English:   Hartnup Disorder
Neutral Amino Acid Transport Defect
Transport Disorder, Neutral Amino Acids
Amino Acid Transport Disorder, Neutral
Neutral Amino Acid Transport Disorder
Transport Disorder, Neutral Amino Acid  
Tree Number:   C10.228.140.163.100.355
C12.777.419.815.885.457
C13.351.968.419.815.885.625
C16.320.565.151.355
C16.320.565.189.355
C16.320.565.861.885.457
C18.452.132.100.355
C18.452.648.151.355
C18.452.648.189.355
Definition English:   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. 
History Note English:   1965 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   6402 
Unique Identifier:   D006250 

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