1993 Volume 2 Issue Supple2 Pages 135-138
A five-year-old Japanese boy with hepatomegaly and muscle weakness due to hepatic phosphorylase kinase deficiency is described. He was also found to have short stature (-2.94 SD). We revealed the presence of mild hypoglycemia, marked ketosis and insufficiency of physiological growth hormone secretion during nighttime. Serum total and free carnitine levels were low and the acyl to total carnitine ratio was high. Urinary acylcarnitine profile by fast atom bombardment and tandem mass spectrometry showed elevated levels of acetyl and dicarboxy carnitines. Uncooked cornstarch (2 g/kg) was given every night for one month. The metabolic and endocrinological abnormalities were improved by uncooked cornstarch treatment.