Abstract
T.S. was a 5 wk. prem. W/F whose neonatal period was complicated by hypoglycemia and prolonged jaundice. She presented at 3 1/2 mos. with hepatomegaly, hypoglycemia, lactic acidosis, hyperuricemia, ↑cholesterol and triglycerides. She also had systolic HP, B.P. varying between 140-200 mm Hg. Glucagon stimulation caused paradoximal hypoglycemia. Light and electron microscopy of liver biopsy were consistent with GSD. Enzyme assays (courtesy of Dr. G. Hug) revealed the following: G-6-P'-tase 5.6 u moles P/min/g tissue (N = 4.7 ± 1.9); liver and muscle debrancher enzyme was present; liver phosphorylase was 12.0 u moles P/min/g tissue (N = 25.1 ± 6.5); active muscle phosphorylase was 9.71 (N = 47.7 ± 13.2) and total muscle phosphorylase was 53.5 (N = 78.0 ± 21.1); liver phosphorylase kinase was 0.067 n moles b → a/min/mg prot. (N = 0.175 ± 0.068). Catecholamines, VMA, HVA, 17-OH, 17-KS, Aldosterone, plasma renin, Ccr, IVP, and aortogram were all normal. At 11 mos. she developed generalized xanthomas; serum cholesterol was 906 mg% and triglycerides 3620 mg%. Clofibrate was started and a month later there was resolution of her xanthomas with fall in cholesterol to 259 mg% and triglycerides to 1624 mg%. Presently she is being maintained on propranolol, diazoxide, allopurinol, Lasix, clofibrate. In summary, our pt. has the clinical picture of Type I A or B GSD but the enzyme findings are suggestive of Type IX. The HP does not fit either type; it could be a coincidental finding, however a true association can not be ruled out at this time.
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Kotoyan, M., Holloway, E. & MacMillan, D. 307 A FORM OF GLYCOGEN STORAGE DISEASE (GSD) WITH HYPERTENSION (HP). Pediatr Res 12 (Suppl 4), 415 (1978). https://doi.org/10.1203/00006450-197804001-00312
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DOI: https://doi.org/10.1203/00006450-197804001-00312