Words similar to aciduria
Example sentences for: aciduria
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In 24 children with inherited disorders of fatty acid oxidation, conduction defects or arrhythmias were the predominant presenting feature [ 14 ] . Arrhythmias in association with hepatomuscular symptoms and hyperammonemia have also been demonstrated in cases of carnitine-acylcarnitine translocase deficiency whose presenting features also include neonatal distress, convulsions, hypoglycemia, hypoketonemia, intermittent dicarboxylic aciduria, hypothermia, apnea, neurological deterioration, and hypocarnitinemia with grossly elevated acylcarnitines [ 15 ] . The accumulation of arrhythmogenic metabolites of fatty acids, such as long chain acylcarnitines, may be responsible for the observed lethal cardiac defects.
1.18) deficiency has a relatively benign clinical course including speech delay and macrochephaly; type II 3-MGC aciduria (Barth syndrome) (Mendelian Inheritance in Man database *302060) has a clinical picture that includes cardiomyopathy, recurrent infections, neutropenia, short stature and normal cognitive function and is caused by mutations in the tafazzin gene (G4.
It has been speculated that an abnormality of translocation of 3-MGC acid across the mitochondrial membrane may be the source of 3-MGC aciduria in these patients [ 23 ] . The link between 3-MGC aciduria and mitochondrial dysfunction may involve failure of mitochondrial uptake of 3-MGC acid or potentially defective ubiquinone biosynthesis leading to increased levels of mevalonate in the mevalonate shunt pathway with subsequent increased synthesis of 3-MGC acid [ 27 ] .
3-MGC aciduria is a rare hereditary organic aciduria characterized by increased urinary excretion of 3-MGC and 3-MGR acids.
At least 4 distinct clinical forms associated with 3-MGC aciduria have been described [ 19 ] . Type I 3-MGC aciduria (Mendelian Inheritance in Man database *250950) due to 3-MGC CoA hydratase (EC 4.2.
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