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.

  • Causes of 3-MGC aciduria in children

  • 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.

  • 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.

  • 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.


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