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