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Disease	3-METHYLGLUTACONIC ACIDURIA (TYPE II), X-LINKED
Synonym	BARTH SYNDROME
OMIM	302060 Comprehensive, authoritative, and timely compendium of human genes and genetic phenotypes OMIM = Online Medalian Inheritance of Men
Orphanet	Short summery, also for non professionals on www.orpha.net
Enzyme	mutations in the taffazin gene (TAZ), alteration in cardiolipin remodeling, normal hydratase (!) Detailed enzyme information on www.expacy.ch
Gene locus	Xp28
genetests.org	search search on genetest.org by MIM 302060 search search on genetest.org by METHYLGLUTACONIC+ACIDURIA Testing - View a listing of laboratories that provide clinical testing for this disorder Research - View a listing of laboratories that provide testing on a research basis only. Resources -
Summary	rare (>20 male patients) X-linked
Clinical symptoms	cardiomegaly cardiomyopathy chorea or athetosis dysmorphism early death failure to thrive feeding difficulties, poor feeding growth retardation hearing defect, deafness hypertonia, spasticity hypothermia hypotonia infections (severe or recurrent) lactic acidosis myopathy neutropenia (decreased neutrophils) onset, adolescent onset, child onset, infant onset, newborn optic atrophy Organic acids, urine seizures
Abnormal Findings in blood	Lactate, fed state Normal: 0.90-1.80 mmol/l \| Significant : 1.00-6.00 mmol/l pH Normal: 7.35-7.45 no unit \| Significant : 7.00-7.40 no unit Pyruvate, blood Normal: 27.00-160.00 µmol/l \| Significant : 0.10-0.30 µmol/l
Abnormal Findings in plasma	Carnitine Normal: 23.00-60.00 µmol/l \| Significant : - decreased
Abnormal Findings in serum	Cholesterol Normal: 3.10-5.20 mmol/l \| Significant : - decreased
Abnormal Findings in urine	2-Ethylhydracrilic acid Normal: 0.00-20.00 mmol/mol creatinine \| Significant : 2.00-33.00 mmol/mol creatinine 3-Methylglutaconic acid Normal: 0.00-9.00 mmol/mol creatinine \| Significant : 25.00-600.00 mmol/mol creatinine 3-Methylglutaric acid Normal: 0.00-7.00 mmol/mol creatinine \| Significant : 10.00-85.00 mmol/mol creatinine Succinate Normal: 5.30-46.30 mmol/mol creatinine \| Significant : - increased
Treatment	L-carnitine panthotenic acid
Literature	There are 11 publications available. Click here to open the relevant 3-METHYLGLUTACONIC ACIDURIA (TYPE II), X-LINKED publications