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Descriptor English: Barth Syndrome
Descriptor Spanish: Síndrome de Barth
Descriptor Portuguese: Síndrome de Barth
Descriptor French: Syndrome de Barth
Entry term(s): 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(s): 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
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D056889
Scope note: 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.
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
Public MeSH Note: 2010
History Note: 2010
Related: Isolated Noncompaction of the Ventricular Myocardium MeSH
DeCS ID: 53535
Unique ID: D056889
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 2010/01/01
Date of Entry: 2009/07/06
Revision Date: 2012/07/03
Barth Syndrome - Preferred
Concept UI M0529363
Scope note 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.
Preferred term Barth Syndrome
Entry term(s) 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



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