Clinical Findings

The hallmarks of the disease are hepatomegaly, hypoglycemia, lactic acidosis, hyperuricemia, hyperlipidemia, and growth retardation. Long-term complications include short stature, osteoporosis, gout, renal disease, pulmonary hypertension, and hepatic adenomas. Virtually all females have ultrasound findings consistent with poly-cystic ovaries.[6] Hepatic adenomas develop in a significant number of patients, and malignant transformation

Type Ib has a similar clinical course with the addition of neutropenia and impaired neutrophil function resulting in recurrent bacterial infections. Oral and mucosal ulcerations are common, and in some cases, regional enteritis can also occur.[8]

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