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:
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.
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.
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.
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 ] .
Orotic aciduria and abnormal acylcarnitine profile as potential markers of mitochondrial disease
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