Magnetic resonance spectroscopy in a 9-day-old heterozygous female child with creatine transporter deficiency.
An X-linked creatine deficiency syndrome caused by mutations in the creatine transporter gene SLC6A8/CRTR mapped to Xq28 has recently been described. Essential in the recognition of this disorder is the absence of creatine on proton magnetic resonance spectroscopy (MRS) examination. A 9-day-old heterozygous female child with this syndrome demonstrated a significant reduction of creatine on proton MRS. She is a carrier of the R514X nonsense mutation.
Cecil
Kim M
KM
Division of Radiology, Children's Hospital Medical Center, University of Cincinnati Medical Center, OH 45229, USA. cecil@athena.chmcc.org
DeGrauw
Ton J
TJ
Salomons
Gajja S
GS
Jakobs
Cornelis
C
Egelhoff
John C
JC
Clark
Joseph F
JF
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000378:metabolism / Q000473:pathology; D001921:Brain / Q000473:pathology; D001923:Brain Chemistry; D018389:Codon, Nonsense; D003401:Creatine / Q000032:analysis / Q000172:deficiency* / Q000235:genetics; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis* / Q000473:pathology; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D009682:Magnetic Resonance Spectroscopy; D026901:Membrane Transport Proteins / Q000172:deficiency* / Q000235:genetics*
D018389:Codon, Nonsense; D026901:Membrane Transport Proteins; C080679:creatine transporter; D003401:Creatine