Words similar to aciduria
Example sentences for: aciduria
How can you use “aciduria” in a sentence? Here are some example sentences to help you improve your vocabulary:
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.
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.
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.
Orotic aciduria and abnormal acylcarnitine profile as potential markers of mitochondrial disease
We suspect that her organic aciduria is associated with mitochondrial dysfunction.
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