Fahmi Nasrallah

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Creatine deficiency syndromes, which have only recently been described, represent a group of inborn errors of creatine synthesis (L-arginine-glycine amidinotransferase deficiency and guanidinoacetate methyltransferase deficiency) and transport (creatine transporter deficiency). Patients with creatine deficiency syndromes present with mental retardation(More)
Introduction Creatine deficiency syndromes (CDS) are inborn errors of creatine (Cr) biosynthesis characterized by mental retardation and severe language impairment. 1 Movement disorders, mainly dystonia have been described as additional features in CDS. 2 We report on an exceptional case of mixed movement disorders due to an atypical form of CDS. A.H. is a(More)
Creatine plays a key role in muscle function and its evaluation is important in athletes. In this study, urinary creatine concentration was measured in order to highlight its possible significance in monitoring sprinters. The study included 51 sprinters and 25 age- and sex-matched untrained subjects as a control group. Body composition was measured and(More)
Introduction This manuscript is a report about a patient under valproate therapy an unusual creatine metabolite profile not explainable by known genetic defects primarily affecting creatine biosynthesis and transport. Normal levels of blood ammonia and amino acids, including creatine precursors (glycine and arginine), and the absence of organic acid markers(More)
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