Homocystinuria [homocystinurie]

topical
108
Terms

deficit cystathionin beta-syntázy
nedostatek cystathionin beta-syntázy
nemoc z deficitu cystathionin beta-syntázy
nemoc z nedostatku cystathionin beta-syntázy

 

CBS Deficiency
Cystathionine Beta Synthase Deficiency
Cystathionine beta-Synthase Deficiency Disease
Deficiency Disease, Cystathionine beta-Synthase

Persistent link   https://www.medvik.cz/link/D006712
Definition

Autosomal recessive inborn error of methionine metabolism usually caused by a deficiency of CYSTATHIONINE BETA-SYNTHASE and associated with elevations of homocysteine in plasma and urine. Clinical features include a tall slender habitus, SCOLIOSIS, arachnodactyly, MUSCLE WEAKNESS, genu varus, thin blond hair, malar flush, lens dislocations, an increased incidence of MENTAL RETARDATION, and a tendency to develop fibrosis of arteries, frequently complicated by CEREBROVASCULAR ACCIDENTS and MYOCARDIAL INFARCTION. (From Adams et al., Principles of Neurology, 6th ed, p979)

DUI
D006712 MeSH Browser
CUI
M0010516
Previous indexing
Amino Acid Metabolism, Inborn Errors (1966); Mental Retardation (1966)
History note
1969(1967)
Public note
1969

Allowable subheadings

BL
blood 7
CF
cerebrospinal fluid
CI
chemically induced
CL
classification 1
CO
complications 10
DI
diagnosis 37
DG
diagnostic imaging
DH
diet therapy 4
DT
drug therapy 14
EC
economics
EM
embryology
EN
enzymology 13
EP
epidemiology 3
EH
ethnology
ET
etiology 14
GE
genetics 40
HI
history
IM
immunology
ME
metabolism 23
MI
microbiology
MO
mortality
NU
nursing
PS
parasitology
PA
pathology 7
PP
physiopathology 3
PC
prevention & control
PX
psychology 1
RT
radiotherapy
RH
rehabilitation
SU
surgery 1
TH
therapy 14
UR
urine 2
VE
veterinary
VI
virology

C Diseases
C10 Nervous System Diseases 1 884
C10.228 Central Nervous System Diseases 810
C10.228.140 Brain Diseases 1 183
C10.228.140.163 Brain Diseases, Metabolic 85
C10.228.140.163.100 Brain Diseases, Metabolic, Inborn 28
C10.228.140.163.100.084 Adrenoleukodystrophy 43
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 12
C10.228.140.163.100.365 Homocystinuria 108
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 14
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 286
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 1 215
C16.320.565 Metabolism, Inborn Errors 714
C16.320.565.100 Amino Acid Metabolism, Inborn Errors 124
C16.320.565.100.480 Hyperhomocysteinemia 212
C16.320.565.100.480.500 Homocystinuria 108
C16.320.565.189 Brain Diseases, Metabolic, Inborn 28
C16.320.565.189.084 Adrenoleukodystrophy 43
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 12
C16.320.565.189.365 Homocystinuria 108
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 14
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 286
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
C17 Skin and Connective Tissue Diseases 32
C17.300 Connective Tissue Diseases 282
C17.300.116 Anetoderma 5
C17.300.182 Cartilage Diseases 141
C17.300.185 Cellulitis 134
C17.300.200 Collagen Diseases 183
C17.300.230 Cutis Laxa 10
C17.300.250 Dermatomyositis 240
C17.300.270 Dupuytren Contracture 61
C17.300.349 Fibromatosis, Plantar
C17.300.428 Homocystinuria 108
C17.300.451 Lipedema 20
C17.300.475 Lupus Erythematosus, Cutaneous 77
C17.300.480 Lupus Erythematosus, Systemic 1 097
C17.300.500 Marfan Syndrome 105
C17.300.540 Mixed Connective Tissue Disease 23
C17.300.550 Mucinoses 17
C17.300.680 Neoplasms, Connective Tissue 122
C17.300.690 Noonan Syndrome 52
C17.300.705 Osteopoikilosis 6
C17.300.710 Panniculitis 43
C17.300.715 Penile Induration 48
C17.300.766 Pseudoxanthoma Elasticum 13
C17.300.775 Rheumatic Diseases 2 184
C17.300.787 Scleroderma, Localized 62
C17.300.799 Scleroderma, Systemic 487
C17.300.849 Undifferentiated Connective Tissue Diseases 3
C17.300.899 Weill-Marchesani Syndrome 1
C18 Nutritional and Metabolic Diseases 172
C18.452 Metabolic Diseases 1 200
C18.452.132 Brain Diseases, Metabolic 85
C18.452.132.100 Brain Diseases, Metabolic, Inborn 28
C18.452.132.100.084 Adrenoleukodystrophy 43
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 12
C18.452.132.100.365 Homocystinuria 108
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 14
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 286
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 714
C18.452.648.100 Amino Acid Metabolism, Inborn Errors 124
C18.452.648.100.480 Hyperhomocysteinemia 212
C18.452.648.100.480.500 Homocystinuria 108
C18.452.648.189 Brain Diseases, Metabolic, Inborn 28
C18.452.648.189.084 Adrenoleukodystrophy 43
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 12
C18.452.648.189.365 Homocystinuria 108
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 14
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 286
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

Homocystinuria, Pyridoxine-Responsive Disease MeSH Browser

Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type Disease MeSH Browser

Methylenetetrahydrofolate reductase deficiency Disease MeSH Browser

Methylmalonic acidemia with homocystinuria Disease MeSH Browser

Mthfr Deficiency, Thermolabile Type Disease MeSH Browser

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