X-linked creatine transporter deficiency presenting as a mitochondrial disorder.
X-linked creatine transporter defect is caused by mutations in SLC6A8 at Xq28, which encodes the sodium-dependent creatine transporter. Reduction in creatine uptake results in elevated urine creatine and CSF creatine deficiency, which can be detected on magnetic resonance spectroscopy. We report a patient who was initially suspected of having a mitochondrial disorder but was later found to have a creatine transporter defect. The abnormal laboratory study results seen in this patient suggesting a mitochondrial cytopathy could be due to excess mitochondrial stress as well as the mitochondrial inclusion bodies. This report looks at the mitochondrial presentation of the creatine transporter deficiency.
Hathaway
Samantha C
SC
Department of Pediatrics, University of Mississippi Medical Center, Jackson, Mississippi, USA.
Friez
Michael
M
Limbo
Kimberly
K
Parker
Colette
C
Salomons
Gajja S
GS
Vockley
Jerry
J
Wood
Tim
T
Abdul-Rahman
Omar A
OA
D000293:Adolescent; D015415:Biomarkers / Q000032:analysis / Q000097:blood / Q000652:urine; D003401:Creatine / Q000032:analysis / Q000097:blood / Q000172:deficiency*; D003937:Diagnosis, Differential; D040181:Genetic Diseases, X-Linked / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*; D006801:Humans; D002479:Inclusion Bodies / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D008297:Male; D008928:Mitochondria / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D028361:Mitochondrial Diseases / Q000175:diagnosis* / Q000378:metabolism / Q000503:physiopathology; D009419:Nerve Tissue Proteins / Q000172:deficiency* / Q000235:genetics*; D018384:Oxidative Stress / Q000235:genetics; D050480:Plasma Membrane Neurotransmitter Transport Proteins / Q000172:deficiency* / Q000235:genetics*
D015415:Biomarkers; D009419:Nerve Tissue Proteins; D050480:Plasma Membrane Neurotransmitter Transport Proteins; C094770:SLC6A8 protein, human; D003401:Creatine