Laboratory workup | What to rule out |
---|---|
Basic profile: Full blood count, Liver function tests, fasting glucose and insulin, urea and electrolytes, coagulation, INR, iron, ferritin, uric acid | Â |
Lipid profile | Dyslipidemia/Familial hypercholesterolemia/ Cholesterol ester storage disease |
Lipoproteins | Abetalipoproteinaemia |
Glucose tolerance test (OGTT), glycosylated hemoglobin | Insulin resistance/Type 2 Diabetes Mellitus (DM2) |
Thyroid function tests | Hypothyroidism |
Ceruloplasmin level | Wilson Disease |
Viral hepatitis panel | Viral - hepatitis (HBV, HCV) |
C-Reactive-Protein + consider EBV, CMV immune state profile | Acute systemic disease |
Sweat test | Cystic Fybrosis |
Anti-Transglutaminase IgA and total IgA | Coeliac disease |
CPK | Muscular Dystrophy |
Alpha-1-antitrypsin serum level | Alpha-1-antitrypsin deficiency |
Serum lactate +/− amino and organic acids +/− plasma-free fatty acids +/− acyl carnitine profile | Metabolic diseases (Galactosaemia -in infants-, hereditary fructose intolerance, glycogen storage disease (Type VI and IX), others |
Serum Immuniglobulin, Liver autoantibodies | Autoimmune hepatitis |
Specific tests as suggested by history, consider: | Drug toxicity, Parenteral Nutrition, Protein malnutrition, others |