Search on:
NEUTRAL AMINO ACID TRANSPORT DEFECT
Descriptors Found:
1
Displaying:
1 .. 1
1 / 1
DeCS
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
Occurrence in VHL
:
Similar:
DeCS
CID-10
SciELO
LILACS
LIS