THE HEPATIC GLYCOGEN-STORAGE DISEASES - PROBLEMS BEYOND CHILDHOOD

The introduction of continuous nocturnal enteral glucose feeds and unc ooked cornstarch has improved the prognosis for patients with the hepa tic glycogen storage diseases. An increasing number of patients are su rviving into adulthood in better health, but still at some medical cos t. In this review we examine bone mineralization, renal function, hepa tic rumours, and vascular endothelial function in GSD I and cardiac fu nction in GSD III. All females over the age of 5 years with GSD I, III , VI and IX had morphologically polycystic ovaries. Thirteen adult GSD I patients have been studied, and been found to have poor bone minera lization and marked renal glomerular and tubular dysfunction. More tha n half of these patients also had focal hepatic lesions on sonography and yet vascular endothelial function was preserved in the face of hyp erlipidaemia. In 12 GSD In patients, one had a focal hepatic lesion an d 6 had pronounced left ventricular hypertrophy, although cardiorespir atory function was normal. These data emphasize the multisystem nature of these disorders and highlight the need for careful long-term follo w-up.