Peroxisomal Disorders [peroxizomální poruchy]

topical
20
Terms

adrenoleukodystrofie neonatální
adrenoleukodystrofie novorozenecká
hyperpipekolická acidemie
hyperpipekolická acidémie
NALD
neonatální adrenoleukodystrofie
novorozenecká adrenoleukodystrofie
peroxisomální poruchy
poruchy peroxisomů

 

Adrenoleukodystrophy, Autosomal Neonatal Form
Adrenoleukodystrophy, Autosomal, Neonatal Form
Adrenoleukodystrophy, Neonatal
Hyperpipecolatemia
Hyperpipecolic Acidemia
Neonatal Adrenoleukodystrophy
Peroxisomal Dysfunction, General
Peroxisomal Dysfunction, Multiple
Peroxisomal Dysfunction, Single

Persistent link   https://www.medvik.cz/link/D018901
Definition

A heterogeneous group of inherited metabolic disorders marked by absent or dysfunctional PEROXISOMES. Peroxisomal enzymatic abnormalities may be single or multiple. Biosynthetic peroxisomal pathways are compromised, including the ability to synthesize ether lipids and to oxidize long-chain fatty acid precursors. Diseases in this category include ZELLWEGER SYNDROME; INFANTILE REFSUM DISEASE; rhizomelic chondrodysplasia (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC); hyperpipecolic acidemia; neonatal adrenoleukodystrophy; and ADRENOLEUKODYSTROPHY (X-linked). Neurologic dysfunction is a prominent feature of most peroxisomal disorders.

Annotation
general or unspecified; prefer specifics; do not confuse entry term ADRENOLEUKODYSTROPHY, NEONATAL with ADRENOLEUKODYSTROPHY
DUI
D018901 MeSH Browser
CUI
M0028264
Previous indexing
Lipid Metabolism, Inborn Errors (1988-1995); Metabolism, Inborn Errors (1988-1995)
History note
1996
Public note
1996

Allowable subheadings

BL
blood
CF
cerebrospinal fluid
CI
chemically induced
CL
classification 2
CO
complications 2
DI
diagnosis 9
DG
diagnostic imaging
DH
diet therapy
DT
drug therapy
EC
economics
EM
embryology
EN
enzymology
EP
epidemiology
EH
ethnology
ET
etiology 2
GE
genetics 5
HI
history
IM
immunology
ME
metabolism 2
MI
microbiology
MO
mortality
NU
nursing
PS
parasitology
PA
pathology 2
PP
physiopathology 2
PC
prevention & control 1
PX
psychology
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy 3
UR
urine
VE
veterinary
VI
virology

C Diseases
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 439
C16.320 Genetic Diseases, Inborn 1 213
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
C16.320.565.595 Lysosomal Storage Diseases 72
C16.320.565.618 Metal Metabolism, Inborn Errors 16
C16.320.565.663 Peroxisomal Disorders 20
C16.320.565.663.050 Acatalasia 3
C16.320.565.663.100 Adrenoleukodystrophy 41
C16.320.565.663.265 Chondrodysplasia Punctata, Rhizomelic
C16.320.565.663.430 Mevalonate Kinase Deficiency 16
C16.320.565.663.760 Refsum Disease 6
C16.320.565.663.865 Refsum Disease, Infantile
C16.320.565.663.970 Zellweger Syndrome 10
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 1 196
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
C18.452.648.595 Lysosomal Storage Diseases 72
C18.452.648.618 Metal Metabolism, Inborn Errors 16
C18.452.648.663 Peroxisomal Disorders 20
C18.452.648.663.050 Acatalasia 3
C18.452.648.663.100 Adrenoleukodystrophy 41
C18.452.648.663.265 Chondrodysplasia Punctata, Rhizomelic
C18.452.648.663.430 Mevalonate Kinase Deficiency 16
C18.452.648.663.760 Refsum Disease 6
C18.452.648.663.865 Refsum Disease, Infantile
C18.452.648.663.970 Zellweger Syndrome 10
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

Bile acid synthesis defect, congenital, 4 Disease MeSH Browser

Peroxisome Biogenesis Disorder, Complementation Group 1 Disease MeSH Browser

Peroxisome Biogenesis Disorder, Complementation Group 11 Disease MeSH Browser

Peroxisome Biogenesis Disorder, Complementation Group 12 Disease MeSH Browser

Peroxisome Biogenesis Disorder, Complementation Group 13 Disease MeSH Browser

Peroxisome Biogenesis Disorder, Complementation Group 14 Disease MeSH Browser

Peroxisome Biogenesis Disorder, Complementation Group 3 Disease MeSH Browser

Peroxisome Biogenesis Disorder, Complementation Group 4 Disease MeSH Browser

Peroxisome Biogenesis Disorder, Complementation Group 7 Disease MeSH Browser

Peroxisome Biogenesis Disorder, Complementation Group 9 Disease MeSH Browser

Peroxisome Biogenesis Disorder, Complementation Group D Disease MeSH Browser

Peroxisome Biogenesis Disorder, Complementation Group E Disease MeSH Browser

Peroxisome Biogenesis Disorder, Complementation Group G Disease MeSH Browser

Peroxisome Biogenesis Disorder, Complementation Group H Disease MeSH Browser

Peroxisome Biogenesis Disorder, Complementation Group J Disease MeSH Browser

Peroxisome Biogenesis Disorder, Complementation Group K Disease MeSH Browser

Peroxisome Biogenesis Disorder, Complementation Group R Disease MeSH Browser

Peroxisome biogenesis disorders Disease MeSH Browser

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