CASE PRESENTATION: An 8-y-old Japanese boy with
Fukuyama-type congenital muscular dystrophy accompanied by severe psychomotor retardation had been constantly bedridden, suffered from
dysphagia, and had been fed through a
gastrostomy tube since the age of 1 y. Regular oral
carnitine supplementation (5 mg/kg/d of
levocarnitine) was initiated at the age of 7 y, which increased serum
carnitine value to within the normal range (serum total
carnitine concentration, 58.5-60.9 μmol/L;
acylcarnitine concentration, 45.8-55.0 μmol/L; free
carnitine concentration, 5.9-12.7 μmol/L). He developed a
fever,
vomiting, and gastrointestinal
bleeding at the age of 8 y. He fell into a
coma and visited an emergency room 12 h later.
Hypoglycemia and hypocarnitinemia (serum total
carnitine concentration, 3.7 μmol/L;
acylcarnitine concentration, 2.9 μmol/L; free
carnitine concentration, 0.8 μmol/L; acyl-to-free
carnitine ratio, 3.6) were observed, and he was found to be negative for urinary
ketone bodies.
CONCLUSIONS: