What is BARTH SYNDROME (BTHS)?

rare (<1:200000) X-linked recessive mutation in the tafazzin gene female carriers of the BTHS gene appear to be healthy

Gibt es eine deutsche Bezeichnung?

Barth-Syndrom; 3-Methylglutaconazidurie Typ 2

rare (<1:200000) X-linked recessive mutation in the tafazzin gene female carriers of the BTHS gene appear to be healthy

Barth-Syndrom; 3-Methylglutaconazidurie Typ 2

Disease	BARTH SYNDROME (BTHS)
Synonym	CARDIOSKELETAL MYOPATHY WITH NEUTROPENIA AND ABNORMAL MITOCHONDRIA
OMIM	302060 OMIM = Online Mendelian Inheritance of Men
Orphanet	111
Protein (UniProt)	Tafazzin
Gene locus	Xq28
ICD	E71.1
Summary	rare (<1:200000) X-linked recessive mutation in the tafazzin gene female carriers of the BTHS gene appear to be healthy
Laboratory findings	2-Ethylhydracrylic acid normal/inc (urine) 3-Methylglutaconic acid normal/inc (urine) 3-Methylglutaric acid inc (urine) Cholesterol n/d (plasma) D-Glucose normal/dec (serum) L-Carnitine normal/dec (plasma) Succinic acid inc (urine) Uric acid normal/inc (plasma)
Symptoms	cardiomyopathy, dilated cardiac arrhythmia, dysrhythmia cardiomegaly cardiomyopathy cardiomyopathy, hypertrophic cardiomyopathy, noncompaction dysmorphism early death endocardial fibroelastosis exercise intolerance facies, cherubic (dolls face) feeding difficulties, poor feeding growth retardation, poor growth heart failure, cardiac failure hypoglycemia infections (severe or recurrent) lactic acidosis male metabolic acidosis muscle weakness myopathy neutropenia (decreased neutrophils) onset, adolescent onset, childhood onset, infancy onset, neonatal oral infections, ulcerations, gangrene Organic acids, urine respiratory distress sepsis short stature ulcerations vomiting