clinical features
Last reviewed 01/2018
- presentation may be with sudden death, seizures, encephalopathy or liver failure
- average age of presentation is 15 months
- presentation is often in winter and autumn when the prevalence of intercurrent infections is highest
- in previously undiagnosed cases there is a 25% mortality at first presentation; 25% have significant neurological morbidity at first presentation
- during crises there is often hepatomegaly secondary to fatty infiltration
- presentation may be as a Reye's like illness
- a late sign is hypoglycaemia
- tendency for decompensation decreases with age with increased glycogen stores
- adults have been diagnosed with MCAD - they have never presented symptomatically but have a strong desire to eat when hungry and not miss meals