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:
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.
3-MGC aciduria is a rare hereditary organic aciduria characterized by increased urinary excretion of 3-MGC and 3-MGR acids.
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.
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 ] .
We suspect that her organic aciduria is associated with mitochondrial dysfunction.
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