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PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY DISEASE
Descriptors Found:
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DeCS
Descriptor
English
:
Pyruvate Dehydrogenase Complex Deficiency Disease
Descriptor
Spanish
:
Enfermedad por Deficiencia del Complejo Piruvato Deshidrogenasa
Descriptor
Portuguese
:
Doença da Deficiência do Complexo de Piruvato Desidrogenase
Synonyms
English
:
Ataxia with Lactic Acidosis, Type I
Lactic Acidosis with Ataxia, Type I
Tree Number:
C10.228.140.163.100.750
C10.597.606.643.455.875
C16.320.322.500.875
C16.320.400.525.875
C16.320.565.189.750
C16.320.565.202.810.766
C18.452.132.100.750
C18.452.648.189.750
C18.452.648.202.810.766
C18.452.660.710
Definition
English
:
An inherited metabolic disorder caused by deficient enzyme activity in the
PYRUVATE DEHYDROGENASE COMPLEX
, resulting in deficiency of
acetyl CoA
and reduced synthesis of
acetylcholine
. Two clinical forms are recognized: neonatal and juvenile. The neonatal form is a relatively common cause of
lactic acidosis
in the first weeks of life and may also feature an erythematous rash. The juvenile form presents with
lactic acidosis
,
alopecia
, intermittent
ATAXIA
;
SEIZURES
; and an erythematous rash. (From J Inherit Metab Dis 1996;19(4):452-62) Autosomal recessive and X-linked forms are caused by mutations in the genes for the three different enzyme components of this multisubunit
pyruvate dehydrogenase complex
. One of the mutations at Xp22.2-p22.1 in the gene for the E1 alpha component of the complex leads to
LEIGH DISEASE.
Indexing Annotation
English
:
DF: PDHC DEFIC DIS
See Related
English
:
Leigh Disease
Pyruvate Dehydrogenase Complex
History Note
English
:
2000(1989); use PYRUVATE METABOLISM, INBORN ERRORS 1989-1990
Allowable Qualifiers
English
:
BL
blood
CF
cerebrospinal fluid
CI
chemically induced
CL
classification
CO
complications
DI
diagnosis
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
RA
radiography
RI
radionuclide imaging
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy
US
ultrasonography
UR
urine
VE
veterinary
VI
virology
Record Number:
23808
Unique Identifier:
D015325
Occurrence in VHL
:
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DeCS
CID-10
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