Fahmi Nasrallah

Learn More
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)
Fahmi Nasrallah, Hanene Benrhouma, Ichraf Kraoua, Gilbert Briand, Souheil Omar, Ilhem Turki Ben Youssef, Naziha Kaabachi 1 Department of Biology, School of Medicine, Laboratory of Biochemistry, Rabta Hospital, Jebbari, 1007 Tunis, Tunisia 2 Department of Child and Adolescent Neurology, School of Medicine, Mongi Ben Hmida Institute of Neurology, 1700 Tunis,(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)
1 Department of Biology, School of Medicine, Laboratory of Biochemistry, Rabta Hospital, Jebbari, 1007 Tunis, Tunisia 2 Department of Biochemistry, School of Medicine, Molecular Biology and Metabolic Diseases, CHRU, 57039 Lille, France 3 Department of Biochemistry and Molecular Biology, School of Medicine, Laboratory of Biochemistry, Molecular Biology 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)
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)
  • 1