Table 1 Signs of an IEM
From: Hypoglycaemia related to inherited metabolic diseases in adults
When to consider a glycogenolysis disorder | When to consider a fatty acid oxidation disorder | When to consider a gluconeogenesis disorder |
|---|---|---|
- Fasting hypoglycaemia | - Fasting hypoglycaemia | - Long fasting hypoglycaemia |
- Presence of ketosis (except for GSD I) | - Absence of ketosis | - Presence of ketosis |
- High blood lactate | - High CPK levels | - Lactic acidosis |
- Hyperuricaemia | - Acylcarnitine accumulation (example: MCAD: high C8 and high C8/C2 ratio) | - High alanine level during fasting |
- Hypertriglyceridaemia | - Urine organic acid accumulation (example: HMG-CoA lyase: 3-Hydroxy-3-Methylglutaric acid) | - Blood glycerol and urine glycerol-3-phosphate accumulation during fasting |
- Hepatomegaly | - High free carnitine plasma level (CPT1) | Â |
- Muscular signs | - Family history of sudden death | Â |