Synonym(s): - Booth-Haworth-Dilling syndrome - Mitochondrial encephalomyopathy - aminoacidopathy - mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic disease Entire classification		Classification (ICD10): - Diseases of the nervous system - See
Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: child / adolescent Type of inheritance: mitochondrial inheritance		External references: 1 OMIM reference - See No MeSH references
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
SUCLA2	Q9P2R7	603921

- Abnormal ERG / electroretinogram / electroretinography
- Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase
- Abnormal VEP / Visual evoked potential
- Aminoacid metabolism anomalies / aminoaciduria
- Areflexia / hyporeflexia
- Ataxia / incoordination / trouble of the equilibrium
- Central deafness / hearing loss
- Dilated cerebral ventricles without hydrocephaly
- Hirsutism / hypertrichosis / Increased body hair
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intracranial / cerebral calcifications
- Microcephaly
- Mild visual loss / impaired visual acuity
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Nerve conduction abnormality
- Psychic / behavioural troubles
- Ptosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short stature / dwarfism / nanism
- Wasted (excluding lipodystrophy) / poorly muscled build / cachexy