Visit Metagene.de!
Summary
BARTH SYNDROME
CARDIOSKELETAL MYOPATHY WITH NEUTROPENIA AND ABNORMAL MITOCHONDRIA
302060
OMIM = Online Medalian Inheritance of Men
111
Xq28
rare
X-linked recessive
symptoms
cardiac arrhythmia, dysrhythmia
cardiomegaly
cardiomyopathy
cardiomyopathy, dilated
cardiomyopathy, noncompaction
early death
endocardial fibroelastosis
growth retardation
infections (severe or recurrent)
male
muscle weakness
myopathy
neutropenia (decreased neutrophils)
Organic acids, urine
short stature
laboratory finding
3-Methylglutaconic acid 0.009.00normal/increasedurine
2-Ethylhydracrilic acid2.0033.000.0020.00mmol/mol creatinineurinechild
Carnitine 40.0060.00normal/decreasedplasma
3-Methylglutaric acid5.00215.00 mmol/mol creatinineurineno data
Succinic acid0.000.00 increasedurineno data
Literature
Vassault ABonnefort JP, Specola N, Saudubray LMLactate, Pyruvate, and Ketone BodiesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00285-3081991
van Gennip AHet al.Inhibition of beta-ureidopropionase by propionate may contribute to the neurological complications in patients with propionic acidaemiaJ Inherit Metab Dis200379-3821997
Vassault ABonnefort JP, Specola N, Saudubray LMLactate, Pyruvate, and Ketone BodiesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00285-3081991
Slocum RHCummings, J.G.Amino Acid Analysis of Physiological SamplesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York0087-1251991
Aebi Met al.Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG. First International Workshop on CDGSGlycoconj J160669-6711999
Vassault ABonnefort JP, Specola N, Saudubray LMLactate, Pyruvate, and Ketone BodiesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00285-3081991
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994