title: [A family with creatine transporter deficiency diagnosed with urinary creatine/creatinine ratio and the family history: the third Japanese familial case].
abstract: Creatine transporter deficiency (CRTR-D) is an X-linked disorder characterized by hypotonia, developmental delay, and seizures. We report the third Japanese family with CRTR-D. The proband was an 8-year-old boy who presented with hypotonia, severe intellectual disability and two episodes of seizures associated with/without fever. Among 7 siblings (4 males, 3 females), the eldest brother had severe intellectual disability, epilepsy, and sudden death at 17 years of age, while 18-year-old third elder brother had severe intellectual disability, autism, and drug-resistant epilepsy. The proband's urinary creatine/creatinine ratio was increased. A reduced creatine peak on brain magnetic resonance spectroscopy and a known pathogenic mutation in the SLC6A8 gene (c.1661 C > T;p.Pro554Leu) confirmed the diagnosis of CRTR-D. The same mutation was found in the third elder brother. Their mother was a heterozygote. Symptoms of CRTR-D are non-specific. Urinary creatine/creatinine ratio should be measured in patients with hypotonia, developmental delay, seizure and autism whose family history indicates an X-linked inheritance.
authors: Fumihito
authors: F
authors: Nozaki
authors: Tomohiro
authors: T
authors: Kumada
authors: Minoru
authors: M
authors: Shibata
authors: Tatsuya
authors: T
authors: Fujii
authors: Takahito
authors: T
authors: Wada
authors: Hitoshi
authors: H
authors: Osaka
mesh_terms: D000293:Adolescent; D020739:Brain Diseases, Metabolic, Inborn / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D002648:Child; D003401:Creatine / Q000172:deficiency* / Q000235:genetics / Q000652:urine*; D003404:Creatinine / Q000652:urine*; D004827:Epilepsy / Q000209:etiology*; D005260:Female; D006801:Humans; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D038901:X-Linked Intellectual Disability / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D050480:Plasma Membrane Neurotransmitter Transport Proteins / Q000172:deficiency* / Q000235:genetics
chemical_list: D050480:Plasma Membrane Neurotransmitter Transport Proteins; D003404:Creatinine; D003401:Creatine