Clinical, biochemical and molecular investigation of adult-onset glutaric acidemia type II: Characteristics in comparison with pediatric cases

An infant with glutaric aciduria type IIc diagnosed with a novel mutation

“…Although, any differences in the clinical phenotypes were not reported regarding the effected gene, ETFA, ETFB, or ETFDH meaning that all clinical forms can be caused by defects in any of these three genes; GTA II is sub-grouped as glutaric aciduria IIa, IIb, and IIc according to the defects in these 3 genes, respectively [1][2][3][4] . In our patient, two different mutations in ETFDH gene were determined.…”

“…The disease is characterized by recurrent episodes of vomiting, lethargy, hypoglycemia, and metabolic acidosis. Muscle pain, weakness, and lipid-storage myopathy are the main presentations of muscle involvement in GA-II 2,5,6 . Three different clinical forms with different ages of onset are described.…”

“…Acylcarnitine profiling by tandem mass spectrometry screening of serum or dried blood spot samples characteristically shows increased concentrations of short-, medium-, and longchain acylcarnitines. However, in the milder form, the abnormal urinary organic aciduria may only be determined during episodes of stress or exacerbations [1][2][3][4]7 . Interestingly, both of urine organic acids and acyl carnitine profile were normal in our patient.…”

“…Glutaric aciduria II or multiple acyl-CoA dehydrogenase deficiency is an autosomal recessive disorder affecting fatty acid, aminoacid, and choline metabolism [1][2][3] . The disease is characterized by recurrent episodes of vomiting, lethargy, hypoglycemia, and metabolic acidosis.…”

“…Excretion in large amounts of not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methylbutyric, and isovaleric acid is the characteristic of GA II that differentiates it from Glutaric aciduria type I 1 . Mutations in 3 main genes, the alpha (ETFA) and beta (ETFB) subunits of electron transfer flavoprotein, and electron transfer flavoprotein dehydrogenase (ETFDH) have been determined to be responsible from the GA II 2,3 . The clinical picture and disease onset may vary depending on the location and nature of the mutations [1][2][3][4][5] .…”