Lipid Metabolism, Inborn Errors [vrozené poruchy metabolismu tuků]

topical
154
Terms

lipidy - vrozené poruchy metabolismu
vrozené poruchy metabolismu lipidů

 

Lipid Metabolism, Inborn Error

Persistent link   https://www.medvik.cz/link/D008052
Definition

Errors in the metabolism of LIPIDS resulting from inborn genetic MUTATIONS that are heritable.

Annotation
coordinate with specific lipid /metab
DUI
D008052 MeSH Browser
CUI
M0012549
History note
65
Public note
65

Allowable subheadings

BL
blood 5
CF
cerebrospinal fluid
CI
chemically induced
CL
classification 3
CO
complications 12
DI
diagnosis 35
DG
diagnostic imaging
DH
diet therapy 10
DT
drug therapy 14
EC
economics
EM
embryology
EN
enzymology 7
EP
epidemiology 3
EH
ethnology
ET
etiology 7
GE
genetics 19
HI
history
IM
immunology
ME
metabolism 5
MI
microbiology
MO
mortality
NU
nursing
PS
parasitology
PA
pathology 7
PP
physiopathology 6
PC
prevention & control 3
PX
psychology
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy 16
UR
urine
VE
veterinary
VI
virology

C Diseases
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 439
C16.320 Genetic Diseases, Inborn 1 214
C16.320.565 Metabolism, Inborn Errors 711
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 26
C16.320.565.202 Carbohydrate Metabolism, Inborn Errors 36
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
C16.320.565.398.224 Barth Syndrome 6
C16.320.565.398.450 Hyperlipidemia, Familial Combined 68
C16.320.565.398.465 Hyperlipoproteinemia Type I 21
C16.320.565.398.481 Hyperlipoproteinemia Type II 456
C16.320.565.398.483 Hyperlipoproteinemia Type III 19
C16.320.565.398.487 Hyperlipoproteinemia Type IV 14
C16.320.565.398.493 Hyperlipoproteinemia Type V 6
C16.320.565.398.500 Hypolipoproteinemias 35
C16.320.565.398.641 Lipidoses 35
C16.320.565.398.745 Lipodystrophy, Congenital Generalized 1
C16.320.565.398.850 Smith-Lemli-Opitz Syndrome 30
C16.320.565.398.925 Xanthomatosis, Cerebrotendinous
C16.320.565.595 Lysosomal Storage Diseases 72
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 40
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 1 197
C18.452.584 Lipid Metabolism Disorders 99
C18.452.584.500 Dyslipidemias 1 646
C18.452.584.563 Lipid Metabolism, Inborn Errors 154
C18.452.584.563.224 Barth Syndrome 6
C18.452.584.563.450 Hyperlipidemia, Familial Combined 68
C18.452.584.563.465 Hyperlipoproteinemia Type I 21
C18.452.584.563.481 Hyperlipoproteinemia Type II 456
C18.452.584.563.483 Hyperlipoproteinemia Type III 19
C18.452.584.563.487 Hyperlipoproteinemia Type IV 14
C18.452.584.563.493 Hyperlipoproteinemia Type V 6
C18.452.584.563.497 Hypobetalipoproteinemia, Familial, Apolipoprotein B 1
C18.452.584.563.500 Hypolipoproteinemias 35
C18.452.584.563.641 Lipidoses 35
C18.452.584.563.745 Lipodystrophy, Congenital Generalized 1
C18.452.584.563.798 Lipodystrophy, Familial Partial 1
C18.452.584.563.824 Shwachman-Diamond Syndrome 2
C18.452.584.563.850 Smith-Lemli-Opitz Syndrome 30
C18.452.584.563.925 Xanthomatosis, Cerebrotendinous
C18.452.584.625 Lipodystrophy 37
C18.452.584.718 Lipomatosis 36
C18.452.584.750 Xanthomatosis 70
C18.452.648 Metabolism, Inborn Errors 711
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 26
C18.452.648.202 Carbohydrate Metabolism, Inborn Errors 36
C18.452.648.300 Hyperbilirubinemia, Hereditary 35
C18.452.648.398 Lipid Metabolism, Inborn Errors 154
C18.452.648.398.224 Barth Syndrome 6
C18.452.648.398.450 Hyperlipidemia, Familial Combined 68
C18.452.648.398.465 Hyperlipoproteinemia Type I 21
C18.452.648.398.481 Hyperlipoproteinemia Type II 456
C18.452.648.398.483 Hyperlipoproteinemia Type III 19
C18.452.648.398.487 Hyperlipoproteinemia Type IV 14
C18.452.648.398.493 Hyperlipoproteinemia Type V 6
C18.452.648.398.500 Hypolipoproteinemias 35
C18.452.648.398.641 Lipidoses 35
C18.452.648.398.745 Lipodystrophy, Congenital Generalized 1
C18.452.648.398.850 Smith-Lemli-Opitz Syndrome 30
C18.452.648.398.925 Xanthomatosis, Cerebrotendinous
C18.452.648.595 Lysosomal Storage Diseases 72
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 40
C18.452.648.893 Renal Tubular Transport, Inborn Errors 36
C18.452.648.925 Steroid Metabolism, Inborn Errors 7

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Carnitine palmitoyl transferase 1A deficiency Disease MeSH Browser

Carnitine-Acylcarnitine Translocase Deficiency Disease MeSH Browser

Chanarin-Dorfman Syndrome Disease MeSH Browser

Cholesteryl Ester Transfer Protein Deficiency Disease MeSH Browser

Cytosolic acetoacetyl-CoA thiolase deficiency Disease MeSH Browser

Desmosterolosis Disease MeSH Browser

Lipase deficiency combined Disease MeSH Browser

Long-chain acyl-CoA dehydrogenase deficiency Disease MeSH Browser

Lp(A) Deficiency, Congenital Disease MeSH Browser

Medium chain acyl CoA dehydrogenase deficiency Disease MeSH Browser

Myopathy with Abnormal Lipid Metabolism Disease MeSH Browser

Neutral Lipid Storage Disease with Myopathy Disease MeSH Browser

Peroxisomal ACYL-COA oxidase deficiency Disease MeSH Browser

Short chain Acyl CoA dehydrogenase deficiency Disease MeSH Browser

Sitosterolemia Disease MeSH Browser

Trifunctional Protein Deficiency With Myopathy And Neuropathy Disease MeSH Browser

Triglyceride Storage Disease, Type I Disease MeSH Browser

Triglyceride Storage Disease, Type II Disease MeSH Browser

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