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:
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.
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.
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.
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.
5) [ 20 ] ; type III 3-MGC aciduria (Costeff optic atrophy syndrome) (Mendelian Inheritance in Man database *258501) was described in patients of Iraqi-Jewish origin with bilateral optic atrophy accompanied in some by movement disorders and caused by mutations in the OPA3 gene [ 21 22 ] ; and type IV 3-MGC aciduria (Mendelian Inheritance in Man database *250951) presents with moderate to severe neurological disease, cardiac, ophthalmic, hepatic, and renal symptoms and it has been associated with mitochondrial disorders (Pearson syndrome, mitochondrial DNA depletion) or multiple respiratory chain defects [ 23 24 25 26 ] . This group does not have a defined primary biochemical or molecular defect.
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