Progressive intestinal, neurological and psychiatric problems in two adult males with cerebral creatine deficiency caused by an SLC6 A8 mutation

Clinical Genetics

Volumn 68, Issue 4, 2005, Pages 379-381

  Kleefstra, T ^a   Rosenberg, E H ^a   Salomons, G S ^a   Stroink, H ^a   van Bokhoven, H ^a   Hamel, B C J ^a   de Vries, B B A ^a  

^a Department of Human Genetics ^*

Author keywords

[No Author keywords available]

Indexed keywords

CREATINE;

ADULT; BRAIN ATROPHY; CASE REPORT; CLINICAL FEATURE; COGNITIVE DEFECT; COHORT ANALYSIS; CONSTIPATION; CONTROLLED STUDY; DEPRESSION; ENTEROPATHY; ENZYME DEFICIENCY; EXTERNAL OPHTHALMOPLEGIA; FACE DISORDER; FAMILY STUDY; FOLLOW UP; GASTROINTESTINAL DISEASE; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; HETEROZYGOTE; HUMAN; INTELLIGENCE TEST; LETTER; MALE; MENTAL DEFICIENCY; MENTAL DISEASE; MOUTH DISEASE; MYOPATHY; NEUROLOGIC DISEASE; NEUROLOGIC EXAMINATION; PARKINSONISM; PHENOTYPE; PRIORITY JOURNAL; PTOSIS; SKIN DISEASE; URETHRA STENOSIS;

AGED; AMINO ACID TRANSPORT DISORDERS, INBORN; BRAIN; CREATINE; DEPRESSION; DISEASE PROGRESSION; FEMALE; GASTROINTESTINAL DISEASES; HUMANS; MALE; MEMBRANE TRANSPORT PROTEINS; MENTAL RETARDATION, X-LINKED; MIDDLE AGED; MUTATION; SYNDROME;

EID: 25144432498     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2005.00489.x     Document Type: Letter

References (9)

1. Bizzi A, Bugiani M, Salomons GS et al. X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8. Ann Neurol 2002: 52: 227-231.
2. Cecil KM, Salomons GS, Ball WS et al. Irreversible brain creatine deficiency with elevated serum and urine creatine: a creatine transporter defect? Ann Neurol 2001: 49: 401-404.
3. DeGrauw TJ, Salomons GS, Cecil KM et al. Congenital creatine transporter deficiency. Neuropediatrics 2002: 33: 232-238.
4. DeGrauw TJ, Cecil KM, Byars AW, Salomons GS, Ball WS, Jakobs C. The clinical syndrome of creatine transporter deficiency. Mol Cell Biochem 2003: 244: 45-48.
5. Hahn KA, Salomons GS, Tackels-Horne D et al. X-Linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28. Am J Hum Genet 2002: 70: 1349-1356.
6. Mancini GMS, Catsman-Berrevoets CE, De Coo IFM et al. Two novel mutations in SLC6A8 cause creatine transporter defect and X-linked mental retardation in two unrelated Dutch families. Am J Med Genet 2004: 132: 288-295.
7. Salomons GS, van Dooren SJ, Verhoeven NM et al. X-linked creatine-transporter gene (SLC6A8) defect: a new creatine deficiency syndrome. Am J Hum Genet 2001: 68: 1497-1500.
8. Salomons GS, van Dooren SJ, Verhoeven NM et al. X-linked creatine transporter defect: an overview. J Inherit Metab Dis 2003: 26: 309-318.
9. Rosenberg EH, Almeida LS, Kleefstra T et al. High prevalence of SLC6A8 deficiency in X-linked mental retardation. Am J Hum Genet 2004: 75: 97-105.