Barth Syndrome [Barthův syndrom]

topical
6
Terms

3-metylglutakonová acidurie typu 2
3-metylglutakonová acidurie typu II
MGA typu 2
MGA typu II

 

3-Methylglutaconic Aciduria, Type II
3-Methylglutaconicaciduria Type 2
3-Methylglutaconicaciduria Type II
Cardioskeletal Myopathy with Neutropenia and Abnormal Mitochondria
MGA Type 2
MGA Type II

Persistent link   https://www.medvik.cz/link/D056889
Definition

Rare congenital X-linked disorder of lipid metabolism. Barth syndrome is transmitted in an X-linked recessive pattern. The syndrome is characterized by muscular weakness, growth retardation, DILATED CARDIOMYOPATHY, variable NEUTROPENIA, 3-methylglutaconic aciduria (type II) and decreases in mitochondrial CARDIOLIPIN level. Other biochemical and morphological mitochondrial abnormalities also exist.

DUI
D056889 MeSH Browser
CUI
M0529363
History note
2010
Public note
2010

Allowable subheadings

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

C Diseases
C14 Cardiovascular Diseases 10 552
C14.240 Cardiovascular Abnormalities 91
C14.240.400 Heart Defects, Congenital 1 563
C14.240.400.021 22q11 Deletion Syndrome 2
C14.240.400.044 Alagille Syndrome 19
C14.240.400.090 Aortic Coarctation 203
C14.240.400.118 Aortico-Ventricular Tunnel 1
C14.240.400.145 Arrhythmogenic Right Ventricular Dysplasia 60
C14.240.400.172 Barth Syndrome 6
C14.240.400.186 Bicuspid Aortic Valve Disease 17
C14.240.400.200 Cor Triatriatum 3
C14.240.400.210 Coronary Vessel Anomalies 119
C14.240.400.220 Crisscross Heart 1
C14.240.400.280 Dextrocardia 21
C14.240.400.340 Ductus Arteriosus, Patent 108
C14.240.400.395 Ebstein Anomaly 46
C14.240.400.422 Ectopia Cordis 1
C14.240.400.450 Eisenmenger Complex 23
C14.240.400.560 Heart Septal Defects 164
C14.240.400.592 Heterotaxy Syndrome 7
C14.240.400.625 Hypoplastic Left Heart Syndrome 34
C14.240.400.660 Isolated Noncompaction of the Ventricular Myocardium 11
C14.240.400.695 LEOPARD Syndrome 11
C14.240.400.701 Levocardia 2
C14.240.400.725 Marfan Syndrome 105
C14.240.400.787 Noonan Syndrome 52
C14.240.400.818 Quadricuspid Aortic Valve
C14.240.400.849 Tetralogy of Fallot 163
C14.240.400.915 Transposition of Great Vessels 109
C14.240.400.920 Tricuspid Atresia 11
C14.240.400.960 Trilogy of Fallot 2
C14.240.400.970 Trisomy 13 Syndrome 6
C14.240.400.975 Trisomy 18 Syndrome 5
C14.240.400.980 Turner Syndrome 272
C14.240.400.990 Univentricular Heart 3
C14.280 Heart Diseases 2 874
C14.280.400 Heart Defects, Congenital 1 563
C14.280.400.044 22q11 Deletion Syndrome 2
C14.280.400.090 Aortic Coarctation 203
C14.280.400.118 Aortico-Ventricular Tunnel 1
C14.280.400.145 Arrhythmogenic Right Ventricular Dysplasia 60
C14.280.400.172 Barth Syndrome 6
C14.280.400.186 Bicuspid Aortic Valve Disease 17
C14.280.400.200 Cor Triatriatum 3
C14.280.400.210 Coronary Vessel Anomalies 119
C14.280.400.220 Crisscross Heart 1
C14.280.400.280 Dextrocardia 21
C14.280.400.340 Ductus Arteriosus, Patent 108
C14.280.400.395 Ebstein Anomaly 46
C14.280.400.450 Eisenmenger Complex 23
C14.280.400.560 Heart Septal Defects 164
C14.280.400.592 Heterotaxy Syndrome 7
C14.280.400.625 Hypoplastic Left Heart Syndrome 34
C14.280.400.660 Isolated Noncompaction of the Ventricular Myocardium 11
C14.280.400.695 LEOPARD Syndrome 11
C14.280.400.701 Levocardia 2
C14.280.400.725 Marfan Syndrome 105
C14.280.400.787 Noonan Syndrome 52
C14.280.400.818 Quadricuspid Aortic Valve
C14.280.400.849 Tetralogy of Fallot 163
C14.280.400.915 Transposition of Great Vessels 109
C14.280.400.920 Tricuspid Atresia 11
C14.280.400.960 Trilogy of Fallot 2
C14.280.400.970 Trisomy 13 Syndrome 6
C14.280.400.975 Trisomy 18 Syndrome 5
C14.280.400.980 Turner Syndrome 272
C14.280.400.990 Univentricular Heart 3
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 439
C16.131 Congenital Abnormalities 1 753
C16.131.077 Abnormalities, Multiple 330
C16.131.077.019 22q11 Deletion Syndrome 2
C16.131.077.065 Alagille Syndrome 19
C16.131.077.095 Angelman Syndrome 35
C16.131.077.121 Barth Syndrome 6
C16.131.077.130 Basal Cell Nevus Syndrome 33
C16.131.077.133 Beckwith-Wiedemann Syndrome 17
C16.131.077.137 Bloom Syndrome 11
C16.131.077.208 Branchio-Oto-Renal Syndrome 5
C16.131.077.229 Carney Complex 8
C16.131.077.245 Ciliopathies 9
C16.131.077.250 Cockayne Syndrome 4
C16.131.077.256 Costello Syndrome 3
C16.131.077.262 Cri-du-Chat Syndrome 11
C16.131.077.272 De Lange Syndrome 4
C16.131.077.299 Deaf-Blind Disorders 65
C16.131.077.313 Donohue Syndrome 1
C16.131.077.327 Down Syndrome 510
C16.131.077.350 Ectodermal Dysplasia 33
C16.131.077.371 Fraser Syndrome 2
C16.131.077.393 Gardner Syndrome 21
C16.131.077.401 Heterotaxy Syndrome 7
C16.131.077.410 Holoprosencephaly 9
C16.131.077.445 Incontinentia Pigmenti 19
C16.131.077.477 Isolated Noncompaction of the Ventricular Myocardium 11
C16.131.077.509 Laurence-Moon Syndrome 6
C16.131.077.525 LEOPARD Syndrome 11
C16.131.077.537 Loeys-Dietz Syndrome 7
C16.131.077.550 Marfan Syndrome 105
C16.131.077.578 Mobius Syndrome 10
C16.131.077.592 Monilethrix 1
C16.131.077.606 Nail-Patella Syndrome 8
C16.131.077.619 Netherton Syndrome 2
C16.131.077.633 Nevus, Sebaceous of Jadassohn 7
C16.131.077.662 Oculocerebrorenal Syndrome 9
C16.131.077.676 Orofaciodigital Syndromes 7
C16.131.077.690 Pallister-Hall Syndrome
C16.131.077.696 Pentalogy of Cantrell 1
C16.131.077.703 POEMS Syndrome 35
C16.131.077.717 Polycystic Kidney Diseases 83
C16.131.077.730 Prader-Willi Syndrome 92
C16.131.077.735 Prolidase Deficiency
C16.131.077.740 Proteus Syndrome 8
C16.131.077.745 Prune Belly Syndrome 3
C16.131.077.790 Rubella Syndrome, Congenital 20
C16.131.077.804 Rubinstein-Taybi Syndrome 12
C16.131.077.850 Short Rib-Polydactyly Syndrome 3
C16.131.077.855 Silver-Russell Syndrome 3
C16.131.077.860 Smith-Lemli-Opitz Syndrome 30
C16.131.077.879 Smith-Magenis Syndrome 2
C16.131.077.889 Sotos Syndrome 4
C16.131.077.899 Trichothiodystrophy Syndromes 1
C16.131.077.919 Trisomy 13 Syndrome 6
C16.131.077.929 Trisomy 18 Syndrome 5
C16.131.077.938 Waardenburg Syndrome 10
C16.131.077.941 Weill-Marchesani Syndrome 1
C16.131.077.944 Wolf-Hirschhorn Syndrome
C16.131.077.970 Zellweger Syndrome 10
C16.131.240 Cardiovascular Abnormalities 91
C16.131.240.400 Heart Defects, Congenital 1 563
C16.131.240.400.021 22q11 Deletion Syndrome 2
C16.131.240.400.044 Alagille Syndrome 19
C16.131.240.400.090 Aortic Coarctation 203
C16.131.240.400.118 Aortico-Ventricular Tunnel 1
C16.131.240.400.145 Arrhythmogenic Right Ventricular Dysplasia 60
C16.131.240.400.172 Barth Syndrome 6
C16.131.240.400.186 Bicuspid Aortic Valve Disease 17
C16.131.240.400.200 Cor Triatriatum 3
C16.131.240.400.210 Coronary Vessel Anomalies 119
C16.131.240.400.220 Crisscross Heart 1
C16.131.240.400.280 Dextrocardia 21
C16.131.240.400.340 Ductus Arteriosus, Patent 108
C16.131.240.400.395 Ebstein Anomaly 46
C16.131.240.400.422 Ectopia Cordis 1
C16.131.240.400.450 Eisenmenger Complex 23
C16.131.240.400.560 Heart Septal Defects 164
C16.131.240.400.592 Heterotaxy Syndrome 7
C16.131.240.400.625 Hypoplastic Left Heart Syndrome 34
C16.131.240.400.655 Isolated Noncompaction of the Ventricular Myocardium 11
C16.131.240.400.685 LEOPARD Syndrome 11
C16.131.240.400.701 Levocardia 2
C16.131.240.400.715 Long QT Syndrome 218
C16.131.240.400.720 Marfan Syndrome 105
C16.131.240.400.784 Noonan Syndrome 52
C16.131.240.400.817 Quadricuspid Aortic Valve
C16.131.240.400.849 Tetralogy of Fallot 163
C16.131.240.400.915 Transposition of Great Vessels 109
C16.131.240.400.920 Tricuspid Atresia 11
C16.131.240.400.960 Trilogy of Fallot 2
C16.131.240.400.965 Trisomy 13 Syndrome 6
C16.131.240.400.968 Trisomy 18 Syndrome 5
C16.131.240.400.970 Turner Syndrome 272
C16.131.240.400.975 Univentricular Heart 3
C16.131.240.400.980 Wolff-Parkinson-White Syndrome 85
C16.320 Genetic Diseases, Inborn 1 215
C16.320.322 Genetic Diseases, X-Linked 60
C16.320.322.030 Aicardi Syndrome
C16.320.322.061 Androgen-Insensitivity Syndrome 56
C16.320.322.068 Barth Syndrome 6
C16.320.322.076 Bulbo-Spinal Atrophy, X-Linked 8
C16.320.322.092 Choroideremia 3
C16.320.322.100 Dent Disease 1
C16.320.322.108 Dyskeratosis Congenita 9
C16.320.322.116 Ectodermal Dysplasia 1, Anhidrotic 3
C16.320.322.124 Fabry Disease 189
C16.320.322.186 Focal Dermal Hypoplasia 6
C16.320.322.201 Glycogen Storage Disease Type IIb 11
C16.320.322.217 Glycogen Storage Disease Type VIII
C16.320.322.233 Granulomatous Disease, Chronic 54
C16.320.322.235 Hemophilia B 216
C16.320.322.237 Hyper-IgM Immunodeficiency Syndrome, Type 1 2
C16.320.322.241 Ichthyosis, X-Linked 9
C16.320.322.370 Isolated Noncompaction of the Ventricular Myocardium 11
C16.320.322.500 X-Linked Intellectual Disability 18
C16.320.322.562 Muscular Dystrophy, Duchenne 136
C16.320.322.625 Muscular Dystrophy, Emery-Dreifuss 18
C16.320.322.750 Oculocerebrorenal Syndrome 9
C16.320.322.828 Ornithine Carbamoyltransferase Deficiency Disease 20
C16.320.322.906 Pelizaeus-Merzbacher Disease 11
C16.320.322.937 Wiskott-Aldrich Syndrome 20
C16.320.322.968 X-Linked Combined Immunodeficiency Diseases 4
C16.320.565 Metabolism, Inborn Errors 714
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
C18 Nutritional and Metabolic Diseases 172
C18.452 Metabolic Diseases 1 200
C18.452.584 Lipid Metabolism Disorders 99
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
C18.452.648 Metabolism, Inborn Errors 714
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

Dilated cardiomyopathy, neutropenia, skeletal myopathy, and abnormal mitochondria Disease MeSH Browser

Noncompaction of Left Ventricular Myocardium, Familial Isolated, X-Linked Disease MeSH Browser

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