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)
BACKGROUND Guanidinoacetate methyltransferase (GAMT) deficiency is a recently described disorder and few cases have been reported to date. As it is a treatable pathology, we seek to contribute to its better understanding, particularly to further elucidate its biochemical diagnosis for early treatment. METHODS The patients, two brothers aged 13 years (P1)(More)
OBJECTIVES To further facilitate the diagnosis of creatine deficiency syndromes (CDS) a modified method was developed for the quantification of urinary creatine and guanidinoacetoacetate using gas chromatography/mass spectrometry (GC/MS) and having the additional advantage of using the same derivatizing agents, column and equipment usually used for the(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)
BACKGROUND X-linked adrenoleukodystrophy is a genetic disease affecting the degradation of very long chain fatty acids. This study aims to describe the clinical phenotype and biochemical feature of Tunisian patients; it also seeks to describe recognition of pattern analysis on the level of very long chain fatty acids in plasma for the visual discrimination(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)
BACKGROUND Zellweger syndrome (ZS) is a peroxisome biogenesis disorder attributed to a mutation of the PEX genes family. The incidence of this disease in Africa and the Arab world remains unknown. This contribution is aimed at describing the clinical phenotype and biochemical features in Tunisian patients with ZS in order to improve the detection and(More)
BACKGROUND Hereditary tyrosinemia type 1 (HT1) is an autosomal recessive disease caused by a defect of fumarylacetoacetate hydrolase. This study aimed to estimate the prevalence of HT1 in Tunisia and report its clinical, biochemical and genetic features. METHODS During the last 25 years, 69 patients were diagnosed with HT1 based on clinical features and(More)
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