Abstract
Objectives To assess varying dietary regimes on the clinical course of three siblings with GSD type lila.
Methods We studied three siblings: a) male age 6 b) female age 4 and c) a female age 2 years. We reviewed retrospectively the clinical notes, laboratory results including creatine kinase CK, AST, ALT and dietary interventions over an 18 month period.
Results All three siblings manifested growth retardation, hepatomegaly, and cardiomyopathy. On a dietary regime of high protein (average 4.5 g/kg/d) with high CHO (average 15 g/kg/d), the median CK levels (n: 20-155 u/1) were in a: 3854 u/1 (r: 1585-
7984), b: 1903 u/1 u/1 (r; 119-3651) and c: 757 u/1 (r: 457-1576). On a regime of increased CH9 (average 15.5 g/~g/d), the_ median CK levels were in a: 3139 u/1 (r: 1447-6463), b: 2479· u/1 (r: 636- 4549) and c: 494 (r: 292-918). There was no significant difference in results with different interventions. The three patients have some degree of hyperinsulinism.
Conclusions: This case series illustrates the persisting challenges of satisfactory treatment of severe presentations of GSD IIIa.