Ayşegül Tokatlı

TL;DR: The results indicate that the late-onset form of GAII and the myopathic form of CoQ10 deficiency are allelic diseases, and it is suggested to give patients both CoQ 10 and riboflavin supplementation, especially for long-term treatment.

TL;DR: It is demonstrated that timely diagnosis in neurologically asymptomatic patients followed by treatment with l-carnitine and a lysine-restricted diet was the best predictor of good outcome, whereas treatment efficacy was low in patients diagnosed after the onset of neurologic disease.

TL;DR: Ass mutations detected in 35 additional CTLN1 families from 11 countries are reported and it may be concluded that any of the 37 missense mutations found at 30 different positions led to structural and functional impairments of the human ASS protein.

TL;DR: To screen and treat all newborns for phenylketonuria and to include at least hypothyroidism in the screening program, there is a need for a more disciplinary intersectoral approach than exists at present.

TL;DR: The authors present 3 children with disorders of propionate metabolism—1 with methylmalonic acidemia and 2 with propionic acidemia—who developed secondary HLH during their metabolic attacks and 1 died of multiorgan failure despite intensive therapy.