The clinical features of this disease, per organ system, include:
Central Nervous System
- Delayed psychomotor development
- Developmental regression
- Poor head and trunk control
- Absent speech
- Spasticity
- Hyperreflexia
- Epileptic encephalopathy
- Hypsarrhythmia on EEG
- Cerebellar atrophy
- Signal abnormalities in the basal ganglia
- Peripheral neuropathy
- Severe hypotonia
Head and Neck
- Acquired microcephaly
- Optic atrophy
- External ophthalmoplegia
- Poor visual fixation
Laboratory features
- Increased or normal serum lactate
- Elongated peroxisomes and elongated mitochondria in fibroblasts
- Defects in peroxisomal and mitochondrial fission
Other(s)
- Dysphagia
- Hepatic steatosis (reported in one patient)