Words similar to aciduria

Example sentences for: aciduria

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Barth syndrome, a cause of 3-MGC aciduria and cardiomyopathy, would be an unlikely diagnosis in our patient primarily due to absence of symptoms in female carriers secondary to presumed skewing of X-inactivation and lack of growth retardation and neutropenia.
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.
Causes of 3-MGC aciduria in children
Reye syndrome, a disorder of unknown cause, is characterized by acute encephalopathy and fatty degeneration of the liver and it is usually characterized by a history of preceding viral illness or the use of aspirin during viral infections [ 10 ] . Many children with metabolic disorders present with Reye-like syndrome episodes, usually at a young age and/or with a positive past or family history suspicious for an inborn error of metabolism [ 11 ] . It has been reported as a presenting sign of type I 3-MGC aciduria and in a few cases of mitochondrial cytopathies in older children [ 12 13 ] . However in the neonatal period, a Reye-like episode is not a typical presenting feature of a mitochondrial cytopathy.
We suspect that this proband's 3-MGC aciduria reflects a defect in mitochondrial energy metabolism and that her mild orotic aciduria may be a nonspecific marker of mitochondrial dysfunction.