Clinical Outcomes and Management in Late Diagnosed Siblings Affected With Attenuated GSD Ib
Abstract
Glycogen storage disease 1b (GSD1b) typically presents in early infancy with poor fasting tolerance, hepatomegaly, and neutropenia. We report two siblings who were diagnosed with GSD1b in adulthood. Both had a normal fasting tolerance throughout childhood and, as adults, were able to fast for at least 16 h without developing hypoglycaemia. The older sibling developed nodular cirrhosis during adolescence. The younger sibling exhibited a more pronounced metabolic phenotype, including hyperuricaemia leading to recurrent gout and nephrolithiasis. He experienced occasional episodes of mild neutropenia that were corrected with empagliflozin treatment. To our knowledge, these represent the first reported patients with GSD1b presenting in adulthood with non-hypoglycaemic complications of the disease and without overt neutropenia or neutrophil dysfunction.
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