Refsum Disease, Infantile [Refsumova nemoc infantilní]

topical
Terms

Refsumova nemoc v dětství

 

Infantile Form of Phytanic Acid Storage Disease
Infantile Phytanic Acid Storage Disease
Infantile Refsum Disease
Infantile Refsum's Disease
Refsum Disease, Infantile Form
Refsum's Disease, Infantile

Persistent link   https://www.medvik.cz/link/D052919
Definition

An early onset form of phytanic acid storage disease with clinical and biochemical signs different from those of REFSUM DISEASE. Features include MENTAL RETARDATION; SENSORINEURAL HEARING LOSS; OSTEOPOROSIS; and severe liver damage. It can be caused by mutation in a number of genes encoding proteins involving in the biogenesis or assembly of PEROXISOMES.

Annotation
do not confuse with REFSUM DISEASE
DUI
D052919 MeSH Browser
CUI
M0028263
Previous indexing
Peroxisomal Disorders (1998-2006); Refsum Disease (1986-2006)
History note
2007; use PEROXISOMAL DISORDERS 1996-2006
Public note
2007; see PEROXISOMAL DISORDERS 1996-2006

Allowable subheadings

BL
blood 0
CF
cerebrospinal fluid 0
CI
chemically induced 0
CL
classification 0
CO
complications 0
DI
diagnosis 0
DG
diagnostic imaging 0
DH
diet therapy 0
DT
drug therapy 0
EC
economics 0
EM
embryology 0
EN
enzymology 0
EP
epidemiology 0
EH
ethnology 0
ET
etiology 0
GE
genetics 0
HI
history 0
IM
immunology 0
ME
metabolism 0
MI
microbiology 0
MO
mortality 0
NU
nursing 0
PS
parasitology 0
PA
pathology 0
PP
physiopathology 0
PC
prevention & control 0
PX
psychology 0
RT
radiotherapy 0
RH
rehabilitation 0
SU
surgery 0
TH
therapy 0
UR
urine 0
VE
veterinary 0
VI
virology 0

C Diseases
C10 Nervous System Diseases 1 877
C10.228 Central Nervous System Diseases 806
C10.228.140 Brain Diseases 1 177
C10.228.140.163 Brain Diseases, Metabolic 84
C10.228.140.163.100 Brain Diseases, Metabolic, Inborn 26
C10.228.140.163.100.084 Adrenoleukodystrophy 41
C10.228.140.163.100.168 Cerebral Amyloid Angiopathy, Familial 1
C10.228.140.163.100.320 Galactosemias 44
C10.228.140.163.100.355 Hartnup Disease 2
C10.228.140.163.100.360 Hepatolenticular Degeneration 243
C10.228.140.163.100.362 Hereditary Central Nervous System Demyelinating Diseases 11
C10.228.140.163.100.365 Homocystinuria 107
C10.228.140.163.100.375 Hyperglycinemia, Nonketotic 7
C10.228.140.163.100.380 Hyperlysinemias
C10.228.140.163.100.412 Leigh Disease 26
C10.228.140.163.100.425 Lesch-Nyhan Syndrome 20
C10.228.140.163.100.435 Lysosomal Storage Diseases, Nervous System 13
C10.228.140.163.100.520 Maple Syrup Urine Disease 8
C10.228.140.163.100.535 MELAS Syndrome 17
C10.228.140.163.100.540 Menkes Kinky Hair Syndrome 12
C10.228.140.163.100.545 MERRF Syndrome 4
C10.228.140.163.100.593 Mevalonate Kinase Deficiency 16
C10.228.140.163.100.640 Oculocerebrorenal Syndrome 9
C10.228.140.163.100.687 Phenylketonurias 285
C10.228.140.163.100.725 Pyruvate Carboxylase Deficiency Disease
C10.228.140.163.100.750 Pyruvate Dehydrogenase Complex Deficiency Disease 9
C10.228.140.163.100.813 Refsum Disease 6
C10.228.140.163.100.844 Refsum Disease, Infantile
C10.228.140.163.100.875 Tyrosinemias 18
C10.228.140.163.100.937 Urea Cycle Disorders, Inborn 7
C10.228.140.163.100.968 Zellweger Syndrome 10
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 439
C16.320 Genetic Diseases, Inborn 1 213
C16.320.565 Metabolism, Inborn Errors 711
C16.320.565.189 Brain Diseases, Metabolic, Inborn 26
C16.320.565.189.084 Adrenoleukodystrophy 41
C16.320.565.189.168 Cerebral Amyloid Angiopathy, Familial 1
C16.320.565.189.320 Galactosemias 44
C16.320.565.189.355 Hartnup Disease 2
C16.320.565.189.360 Hepatolenticular Degeneration 243
C16.320.565.189.362 Hereditary Central Nervous System Demyelinating Diseases 11
C16.320.565.189.365 Homocystinuria 107
C16.320.565.189.375 Hyperglycinemia, Nonketotic 7
C16.320.565.189.380 Hyperlysinemias
C16.320.565.189.412 Leigh Disease 26
C16.320.565.189.425 Lesch-Nyhan Syndrome 20
C16.320.565.189.435 Lysosomal Storage Diseases, Nervous System 13
C16.320.565.189.520 Maple Syrup Urine Disease 8
C16.320.565.189.535 MELAS Syndrome 17
C16.320.565.189.540 Menkes Kinky Hair Syndrome 12
C16.320.565.189.545 MERRF Syndrome 4
C16.320.565.189.593 Mevalonate Kinase Deficiency 16
C16.320.565.189.640 Oculocerebrorenal Syndrome 9
C16.320.565.189.687 Phenylketonurias 285
C16.320.565.189.725 Pyruvate Carboxylase Deficiency Disease
C16.320.565.189.750 Pyruvate Dehydrogenase Complex Deficiency Disease 9
C16.320.565.189.813 Refsum Disease 6
C16.320.565.189.844 Refsum Disease, Infantile
C16.320.565.189.875 Tyrosinemias 18
C16.320.565.189.937 Urea Cycle Disorders, Inborn 7
C16.320.565.189.968 Zellweger Syndrome 10
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
C18 Nutritional and Metabolic Diseases 172
C18.452 Metabolic Diseases 1 196
C18.452.132 Brain Diseases, Metabolic 84
C18.452.132.100 Brain Diseases, Metabolic, Inborn 26
C18.452.132.100.084 Adrenoleukodystrophy 41
C18.452.132.100.168 Cerebral Amyloid Angiopathy, Familial 1
C18.452.132.100.320 Galactosemias 44
C18.452.132.100.355 Hartnup Disease 2
C18.452.132.100.360 Hepatolenticular Degeneration 243
C18.452.132.100.362 Hereditary Central Nervous System Demyelinating Diseases 11
C18.452.132.100.365 Homocystinuria 107
C18.452.132.100.375 Hyperglycinemia, Nonketotic 7
C18.452.132.100.380 Hyperlysinemias
C18.452.132.100.412 Leigh Disease 26
C18.452.132.100.425 Lesch-Nyhan Syndrome 20
C18.452.132.100.435 Lysosomal Storage Diseases, Nervous System 13
C18.452.132.100.520 Maple Syrup Urine Disease 8
C18.452.132.100.535 MELAS Syndrome 17
C18.452.132.100.540 Menkes Kinky Hair Syndrome 12
C18.452.132.100.545 MERRF Syndrome 4
C18.452.132.100.593 Mevalonate Kinase Deficiency 16
C18.452.132.100.640 Oculocerebrorenal Syndrome 9
C18.452.132.100.687 Phenylketonurias 285
C18.452.132.100.725 Pyruvate Carboxylase Deficiency Disease
C18.452.132.100.750 Pyruvate Dehydrogenase Complex Deficiency Disease 9
C18.452.132.100.813 Refsum Disease 6
C18.452.132.100.844 Refsum Disease, Infantile
C18.452.132.100.875 Tyrosinemias 18
C18.452.132.100.937 Urea Cycle Disorders, Inborn 7
C18.452.132.100.968 Zellweger Syndrome 10
C18.452.648 Metabolism, Inborn Errors 711
C18.452.648.189 Brain Diseases, Metabolic, Inborn 26
C18.452.648.189.084 Adrenoleukodystrophy 41
C18.452.648.189.168 Cerebral Amyloid Angiopathy, Familial 1
C18.452.648.189.320 Galactosemias 44
C18.452.648.189.355 Hartnup Disease 2
C18.452.648.189.360 Hepatolenticular Degeneration 243
C18.452.648.189.362 Hereditary Central Nervous System Demyelinating Diseases 11
C18.452.648.189.365 Homocystinuria 107
C18.452.648.189.375 Hyperglycinemia, Nonketotic 7
C18.452.648.189.380 Hyperlysinemias
C18.452.648.189.412 Leigh Disease 26
C18.452.648.189.425 Lesch-Nyhan Syndrome 20
C18.452.648.189.435 Lysosomal Storage Diseases, Nervous System 13
C18.452.648.189.520 Maple Syrup Urine Disease 8
C18.452.648.189.535 MELAS Syndrome 17
C18.452.648.189.540 Menkes Kinky Hair Syndrome 12
C18.452.648.189.545 MERRF Syndrome 4
C18.452.648.189.593 Mevalonate Kinase Deficiency 16
C18.452.648.189.640 Oculocerebrorenal Syndrome 9
C18.452.648.189.687 Phenylketonurias 285
C18.452.648.189.725 Pyruvate Carboxylase Deficiency Disease
C18.452.648.189.750 Pyruvate Dehydrogenase Complex Deficiency Disease 9
C18.452.648.189.813 Refsum Disease 6
C18.452.648.189.844 Refsum Disease, Infantile
C18.452.648.189.875 Tyrosinemias 18
C18.452.648.189.937 Urea Cycle Disorders, Inborn 7
C18.452.648.189.968 Zellweger Syndrome 10
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

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