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. 2012 May;5(3):199–207. doi: 10.1177/1756283X11430859

Table 2.

Genetic causes of NAFLD

Disease Genetic mutation Age of presentation Other clinical symptoms Management
Abetalipoproteinemia Microsomal triglyceride transfer protein Infancy Growth problems, mental retardation Low-fat diet; fat soluble vitamin supplementation
Familial hypobetalipoproteinemia apoB100 Infancy Failure to thrive steatorrhea, spinocerebellar degenerative ataxia Low-fat diet; fat soluble vitamin supplementation
Familial combined hyperlipidemia USF1 Infancy Hypertriglyceridemia, hypercholesterolemia, Low-fat diets, exercise, smoking cessation, weight loss
Glycogen storage disease PHKA2, PHKB Infancy Growth retardation, lactic acidosis, and development delay Avoidance of fasting, ingestion of corn starch, liver transplantation
Weber–Christian disease unknown Childhood Fever, arthralgias, myalgias, skin lesions, and painful subcutaneous nodules Immunosuppressive reagents, NSAIDs, glucocorticoids
Lipodystrophy (congenital) AGPAT2, BSCL2 Infancy Severe fat loss, voracious appetite, accelerated linear growth, and advanced bone age Low-fat diet

NAFLD, nonalcoholic fatty liver disease; NSAID, nonsteroidal anti-inflammatory drug