Search on: BARTH SYNDROME 
Descriptors Found: 1
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Descriptor English:   Barth Syndrome 
Descriptor Spanish:   Síndrome de Barth 
Descriptor Portuguese:   Síndrome de Barth 
Synonyms English:   3 Methylglutaconic Aciduria, Type II
3 Methylglutaconicaciduria Type 2
3-Methylglutaconic Aciduria, Type II
3-Methylglutaconicaciduria Type 2
3-Methylglutaconicaciduria Type 2s
3-Methylglutaconicaciduria Type II
3-Methylglutaconicaciduria Type IIs
Cardioskeletal Myopathy with Neutropenia and Abnormal Mitochondria
MGA Type 2
MGA Type 2s
MGA Type II
MGA Type IIs
Syndrome, Barth
Type 2, 3-Methylglutaconicaciduria
Type 2, MGA
Type 2s, MGA
Type II, MGA
Type IIs, MGA  
Tree Number:   C14.240.400.172
C14.280.400.172
C16.131.077.121
C16.131.240.400.172
C16.320.322.068
C16.320.565.398.224
C18.452.648.398.224
Definition English:   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. 
See Related English:   Isolated Noncompaction of the Ventricular Myocardium
 
History Note English:   2010 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   53535 
Unique Identifier:   D056889 

Occurrence in VHL: 		 

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