Example sentences for: aciduria

How can you use “aciduria” in a sentence? Here are some example sentences to help you improve your vocabulary:

  • 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.

  • We suspect that her organic aciduria is associated with mitochondrial dysfunction.

  • 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.

  • 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.

  • 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.

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