Creatine deficiency syndrome due to mutations in X-linked SLC6A8 gene results in nonspecific intellectual disability (ID). Diagnosis cannot be established on clinical grounds and is often based on the assessment of brain creatine levels by magnetic resonance spectroscopy (MRS). Considering high costs of MRS and necessity of sedation, this technique cannot be used as a first level-screening test...

A child with the Tel Hashomer camptodactyly syndrome is reported. Although muscle weakness and hypoplasia are reported features of this syndrome, further investigation of muscle function has not previously been carried out. We report a raised creatine kinase and an abnormal electromyogram and muscle biopsy in this syndrome. The histology of the muscle biopsy shows a wide range fibre diameter in...

Life-threatening hyperammonemia is uncommon in patients with mitochondrial disorders (MDs).When present, it is usualy due to TMEM70 deficiency [1] and only rarely is it noted in other MDs [2]. Hyperammonemia was documented in patients with Barth syndrome [2], maternally inherited Leigh syndrome (MILS) [3], pyruvate dehydrogenase deficiency [4], pyruvate carboxylase deficiency [5], complex III d...

nutrition is an important factor that influences immunity, and nutritional deficiencies can impair resistance to infections. malnutrition is the most common cause of immunodeficiency worldwide. trace elements such as zinc, selenium, iron, and copper can influence several components of immunity. primary antibody deficiency disorders are a group of disorders characterized by an unusual susceptibi...

Levetiracetam is one of the safest drugs which used for treatment focal and generalized seizures during childhood. Until now, few patients have been reported with diagnosis acute rhabdomyolysis due to levetiracetam our case youngest patient in literature. Two-year old girl followed atypical Rett syndrome (CDKL 5 deficiency) was admitted hospital pneumonia respiratory insufficiency. She receivin...

Phosphorylated creatine (Cr) serves as an energy buffer for ATP replenishment in organs with highly fluctuating energy demand. The central role of Cr in the brain and muscle is emphasized by severe neurometabolic disorders caused by Cr deficiency. Common symptoms of inborn errors of creatine synthesis or distribution include mental retardation and muscular weakness. Human mutations in l-arginin...

X-linked cerebral creatine deficiency (MIM 300036) is caused by deficiency of the creatine transporter encoded by the SLC6A8 gene. Here we report three patients with this condition from Israel. These unrelated patients were evaluated for global developmental delays and language apraxia. Borderline microcephaly was noted in one of them. Diagnosis was prompted by brain magnetic resonance imaging ...

The creatine transporter deficiency is an X-linked cause of intellectual disability. We investigated the clinical features and pattern of X-inactivation in a Dutch cohort of eight female heterozygotes. We show that symptoms of the creatine transporter deficiency (intellectual disability, learning difficulties, constipation) can be present in female heterozygotes. We further show that the diagno...