Successful long-term treatment of hepatic carnitine palmitoyltransferase I deficiency and a novel mutation.
Individuals with carnitine palmitoyltransferase I (CPT-I) deficiency cannot metabolize long-chain fatty acids and can develop life-threatening hypoglycaemia. We present a boy with CPT-I deficiency maintained on a very low-fat diet with nighttime uncooked cornstarch feedings for 5(1/2) years with good success. He has had normal growth and no episodes of hypoglycaemia or adverse side-effects. We found that he was homozygous for a previously undescribed mutation, T314I, in the CPT1A protein.
Stoler
J M
JM
Genetics and Teratology Unit, Massachusetts General Hospital, 55 Fruit Street Warren 801, Boston MA 02114, USA. jstoler@partners.org
Sabry
M A
MA
Hanley
C
C
Hoppel
C L
CL
Shih
V E
VE
D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency* / Q000235:genetics*; D004247:DNA / Q000378:metabolism; D018076:DNA, Complementary / Q000378:metabolism; D004032:Diet; D005091:Exons; D005347:Fibroblasts / Q000378:metabolism; D006720:Homozygote; D006801:Humans; D008052:Lipid Metabolism, Inborn Errors / Q000628:therapy*; D008099:Liver / Q000201:enzymology*; D008214:Lymphocytes / Q000378:metabolism; D008297:Male; D009154:Mutation; D012313:RNA / Q000378:metabolism; D012333:RNA, Messenger / Q000378:metabolism; D020133:Reverse Transcriptase Polymerase Chain Reaction; D013213:Starch / Q000627:therapeutic use*; D013696:Temperature
D018076:DNA, Complementary; D012333:RNA, Messenger; D012313:RNA; D013213:Starch; D004247:DNA; D002334:Carnitine O-Palmitoyltransferase