Carbohydrate Metabolism, Inborn Errors [vrozené poruchy metabolismu sacharidů]

topical
36
Terms

sacharidy - vrozené poruchy metabolismu
vrozené poruchy metabolismu uhlohydrátů

 

Carbohydrate Metabolism, Inborn Error

Persistent link   https://www.medvik.cz/link/D002239
Definition

Dysfunctions of CARBOHYDRATE METABOLISM resulting from inborn genetic mutations that are inherited or acquired in utero.

Annotation
coordinate with specific carbohydrate /metab but note specifics
DUI
D002239 MeSH Browser
CUI
M0003357
History note
65
Public note
65

Allowable subheadings

BL
blood
CF
cerebrospinal fluid
CI
chemically induced
CL
classification 1
CO
complications 4
DI
diagnosis 18
DG
diagnostic imaging
DH
diet therapy 4
DT
drug therapy
EC
economics
EM
embryology
EN
enzymology
EP
epidemiology
EH
ethnology
ET
etiology 5
GE
genetics 7
HI
history 1
IM
immunology 1
ME
metabolism 5
MI
microbiology
MO
mortality
NU
nursing
PS
parasitology
PA
pathology 1
PP
physiopathology 2
PC
prevention & control 1
PX
psychology
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy 7
UR
urine 1
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
C16.320.565.151 Amino Acid Transport Disorders, Inborn 1
C16.320.565.176 Amyloidosis, Familial 16
C16.320.565.189 Brain Diseases, Metabolic, Inborn 28
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
C16.320.565.202.810 Pyruvate Metabolism, Inborn Errors 6
C16.320.565.240 Cytochrome-c Oxidase Deficiency 27
C16.320.565.300 Hyperbilirubinemia, Hereditary 35
C16.320.565.398 Lipid Metabolism, Inborn Errors 154
C16.320.565.595 Lysosomal Storage Diseases 73
C16.320.565.618 Metal Metabolism, Inborn Errors 16
C16.320.565.663 Peroxisomal Disorders 20
C16.320.565.753 Progeria 27
C16.320.565.798 Purine-Pyrimidine Metabolism, Inborn Errors 41
C16.320.565.893 Renal Tubular Transport, Inborn Errors 36
C16.320.565.925 Steroid Metabolism, Inborn Errors 7
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
C18.452.648.151 Amino Acid Transport Disorders, Inborn 1
C18.452.648.176 Amyloidosis, Familial 16
C18.452.648.189 Brain Diseases, Metabolic, Inborn 28
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
C18.452.648.202.810 Pyruvate Metabolism, Inborn Errors 6
C18.452.648.300 Hyperbilirubinemia, Hereditary 35
C18.452.648.398 Lipid Metabolism, Inborn Errors 154
C18.452.648.595 Lysosomal Storage Diseases 73
C18.452.648.618 Metal Metabolism, Inborn Errors 16
C18.452.648.663 Peroxisomal Disorders 20
C18.452.648.753 Progeria 27
C18.452.648.798 Purine-Pyrimidine Metabolism, Inborn Errors 41
C18.452.648.893 Renal Tubular Transport, Inborn Errors 36
C18.452.648.925 Steroid Metabolism, Inborn Errors 7

Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome Disease MeSH Browser

D-glycericacidemia Disease MeSH Browser

Fructose and Galactose Intolerance Disease MeSH Browser

Glucose-Galactose Malabsorption Disease MeSH Browser

Glut1 Deficiency Syndrome Disease MeSH Browser

Hyperproglucagonemia Disease MeSH Browser

Lactase Deficiency, Congenital Disease MeSH Browser

Lactate Dehydrogenase Deficiency Disease MeSH Browser

Myopathy with Storage of Glycoproteins and Glycosaminoglycans Disease MeSH Browser

Pentosuria Disease MeSH Browser

Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial Disease MeSH Browser

Phosphoenolpyruvate carboxykinase deficiency Disease MeSH Browser

Phosphoglycerate Dehydrogenase Deficiency Disease MeSH Browser

Polysaccharide, Storage of Unusual Disease MeSH Browser

Ribose 5-Phosphate Isomerase Deficiency Disease MeSH Browser

Sucrase-isomaltase deficiency, congenital Disease MeSH Browser

Transaldolase Deficiency Disease MeSH Browser

Trehalase Deficiency Disease MeSH Browser

Triosephosphate Isomerase Deficiency Disease MeSH Browser

Xylosidase Deficiency Disease MeSH Browser

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