Multiple Carboxylase Deficiency [mnohočetná karboxylázová deficience]

topical
Terms

deficit karboxylázy závislé na biotinu
karboxylasa - mnohočetný nedostatek
mnohočetný deficit karboxyláz
mnohočetný deficit karboxylázy
mnohočetný karboxylázový deficit
mnohočetný nedostatek karboxylázy
nedostatek karboxylázy závislé na biotinu

 

Carboxylase Deficiency, Combined
Carboxylase Deficiency, Multiple
Combined Carboxylase Deficiency
Deficiency, Combined Carboxylase
Deficiency, Multiple Carboxylase

Persistent link   https://www.medvik.cz/link/D009100
Definition

A deficiency in the activities of biotin-dependent enzymes (propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to one of two defects in BIOTIN metabolism. The neonatal form is due to HOLOCARBOXYLASE SYNTHETASE DEFICIENCY. The late-onset form is due to BIOTINIDASE DEFICIENCY.

DUI
D009100 MeSH Browser
CUI
M0014194
Previous indexing
specific enzyme (1966-1974); specific enzyme/deficiency (1975-1986)
History note
87
Public note
87

Allowable subheadings

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

C Diseases
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 439
C16.320 Genetic Diseases, Inborn 1 215
C16.320.565 Metabolism, Inborn Errors 714
C16.320.565.100 Amino Acid Metabolism, Inborn Errors 124
C16.320.565.100.102 Albinism 17
C16.320.565.100.187 Alkaptonuria 76
C16.320.565.100.477 Hyperglycinemia, Nonketotic 7
C16.320.565.100.480 Hyperhomocysteinemia 212
C16.320.565.100.544 Hyperlysinemias
C16.320.565.100.608 Maple Syrup Urine Disease 8
C16.320.565.100.614 Multiple Acyl Coenzyme A Dehydrogenase Deficiency 2
C16.320.565.100.620 Multiple Carboxylase Deficiency
C16.320.565.100.620.100 Biotinidase Deficiency 2
C16.320.565.100.620.380 Holocarboxylase Synthetase Deficiency
C16.320.565.100.766 Phenylketonurias 286
C16.320.565.100.794 Prolidase Deficiency
C16.320.565.100.823 Propionic Acidemia 3
C16.320.565.100.880 Tyrosinemias 18
C16.320.565.100.940 Urea Cycle Disorders, Inborn 7
C16.320.565.202 Carbohydrate Metabolism, Inborn Errors 36
C16.320.565.202.125 Congenital Disorders of Glycosylation 30
C16.320.565.202.251 Fructose Metabolism, Inborn Errors 5
C16.320.565.202.303 Fucosidosis 2
C16.320.565.202.355 Galactosemias 44
C16.320.565.202.402 Glucosephosphate Dehydrogenase Deficiency 15
C16.320.565.202.449 Glycogen Storage Disease 45
C16.320.565.202.460 Hyperoxaluria, Primary 10
C16.320.565.202.589 Lactose Intolerance 132
C16.320.565.202.607 Mannosidase Deficiency Diseases 1
C16.320.565.202.670 Mucolipidoses 10
C16.320.565.202.715 Mucopolysaccharidoses 81
C16.320.565.202.720 Multiple Carboxylase Deficiency
C16.320.565.202.720.100 Biotinidase Deficiency 2
C16.320.565.202.720.380 Holocarboxylase Synthetase Deficiency
C16.320.565.202.810 Pyruvate Metabolism, Inborn Errors 6
C18 Nutritional and Metabolic Diseases 172
C18.452 Metabolic Diseases 1 200
C18.452.648 Metabolism, Inborn Errors 714
C18.452.648.100 Amino Acid Metabolism, Inborn Errors 124
C18.452.648.100.102 Albinism 17
C18.452.648.100.187 Alkaptonuria 76
C18.452.648.100.477 Hyperglycinemia, Nonketotic 7
C18.452.648.100.480 Hyperhomocysteinemia 212
C18.452.648.100.544 Hyperlysinemias
C18.452.648.100.608 Maple Syrup Urine Disease 8
C18.452.648.100.614 Multiple Acyl Coenzyme A Dehydrogenase Deficiency 2
C18.452.648.100.620 Multiple Carboxylase Deficiency
C18.452.648.100.620.100 Biotinidase Deficiency 2
C18.452.648.100.620.380 Holocarboxylase Synthetase Deficiency
C18.452.648.100.766 Phenylketonurias 286
C18.452.648.100.823 Propionic Acidemia 3
C18.452.648.100.880 Tyrosinemias 18
C18.452.648.100.940 Urea Cycle Disorders, Inborn 7
C18.452.648.202 Carbohydrate Metabolism, Inborn Errors 36
C18.452.648.202.125 Congenital Disorders of Glycosylation 30
C18.452.648.202.251 Fructose Metabolism, Inborn Errors 5
C18.452.648.202.303 Fucosidosis 2
C18.452.648.202.355 Galactosemias 44
C18.452.648.202.402 Glucosephosphate Dehydrogenase Deficiency 15
C18.452.648.202.449 Glycogen Storage Disease 45
C18.452.648.202.460 Hyperoxaluria, Primary 10
C18.452.648.202.589 Lactose Intolerance 132
C18.452.648.202.607 Mannosidase Deficiency Diseases 1
C18.452.648.202.670 Mucolipidoses 10
C18.452.648.202.715 Mucopolysaccharidoses 81
C18.452.648.202.720 Multiple Carboxylase Deficiency
C18.452.648.202.720.100 Biotinidase Deficiency 2
C18.452.648.202.720.380 Holocarboxylase Synthetase Deficiency
C18.452.648.202.810 Pyruvate Metabolism, Inborn Errors 6

Multiple Carboxylase Deficiency, Juvenile-Onset Disease MeSH Browser

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