Creatine transporter defect diagnosed by proton NMR spectroscopy in males with intellectual disability.
Bottom Line: A confirmatory second urine test was positive in two patients and diagnosis was further confirmed by a decreased brain creatine level and by SLC6A8 gene analysis.A repeat urine test was negative in the third patient and accordingly creatine level in the brain and SLC6A8 gene analysis both gave a normal result.We conclude that Cr/Crn ratio measured by NMR for male patients represents a rapid and useful first level screening test preceding molecular analysis.
Affiliation: Medical Genetics, Department of Biotechnology, University of Siena, Italy.Show MeSH
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Mentions: Patient 1 (#1115) (Fig. 3a) is a 18-year-old boy, the third child of nonconsanguineous and healthy parents. His mother showed a mild ID. He was born at term by caesarian after a pregnancy of normal course. At birth he showed a weight of 3,030 g (25–50th centile) and hypotonia. Psychomotor delay was noted since early infancy: crawling was acquired after 1 year and first single words after 1 year. He had two episodes of seizures, one of which in fever. Karyotype with resolution of 400 bands and molecular analysis of FMR1, SCN1A, and GABRG2 genes were normal. Physical examination at 16 years and 8 months showed: height 174 cm (50–75th centile), weight 83 kg (90–97th centile), OFC 57 cm (90–97th centile), sparse eyebrows, long ears (7 cm, >+2DS), M-shaped upper lip, open mouth, normal hand- and foot length. He was not able to formulate sentences and showed hyperactivity, hyperphagia, and aggressiveness.
Affiliation: Medical Genetics, Department of Biotechnology, University of Siena, Italy.