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ISCA1 deficiency in short
- A rare mitochondrial disorder marked by early infantile onset of progressive neurological decline, including seizures, spasticity, and absent psychomotor development.
- Neuroimaging typically reveals severe leukodystrophy and defects in neuronal migration.
- Lactic acidosis is frequently observed. The condition is generally fatal in early childhood.
Synonyms
- Multiple mitochondrial dysfunctions syndrome type 5
- MMDS5
Prevalence: <1 / 1 000 000
Inheritance: Autosomal recessive
Age of onset: Infancy
