[A family with creatine transporter deficiency diagnosed with urinary creatine/creatinine ratio and the family history: the third Japanese familial case].
No To Hattatsu
; 47(1): 49-52, 2015 Jan.
Article
em Ja
| MEDLINE
| ID: mdl-25803912
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Creatina
/
Creatinina
/
Encefalopatias Metabólicas Congênitas
/
Deficiência Intelectual Ligada ao Cromossomo X
/
Epilepsia
/
Proteínas da Membrana Plasmática de Transporte de Neurotransmissores
/
Mutação
Tipo de estudo:
Diagnostic_studies
Limite:
Adolescent
/
Child
/
Female
/
Humans
/
Male
Idioma:
Ja
Revista:
No To Hattatsu
Ano de publicação:
2015
Tipo de documento:
Article