As a result, the patient developed various GSD1b-related complications including long standing hyperlipidemia with extremely elevated serum triglyceride levels ranging between 1,000 and 2,500 mg/dl (desirable <150 mg/dl, borderline-high 150–199 mg/dl, high 200–499 mg/dl extreme ≥500 mg/dl), hypercholesterolemia, severe growth retardation, delayed puberty, massive hepatomegaly, osteopenia, nephromegaly with proteinuria due to glomerulopathy (for which treatment with inhibitor of angiotensin converting enzyme 5 mg/day was initiated) and renal tubular dysfunction. The gene discussed is SLC37A4; the disease is Hypercholesterolemia.