fatal multiple mitochondrial dysfunctions syndrome
Findings
No curated finding names fatal multiple mitochondrial dysfunctions syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Multiple mitochondrial dysfunctions syndrome describes a group of rare inborn errors of energy metabolism due to defects in mitochondrial [4Fe-4S] protein assembly. Patients present with a neonatal/infancy onset of metabolic lactic acidosis (that may be associated with hyperglycinemia and other abnormal metabolic testing results), muscular hypotonia, absence of psychomotor development or developmental regression, as well as abnormal neuroimaging findings (including leukodystrophy, brain developmental defects, white matter abnormalities, cerebral atrophy), and other variable clinical features (e.g., optic atrophy, cardiomyopathy, pulmonary hypertension, seizures, and dysmorphic features). Early fatal outcome is usual.
Definition from the Mondo Disease Ontology (MONDO:0017338), read 2026-09-29. CC BY 4.0.
Where it sits
- Narrower terms (9)
- multiple mitochondrial dysfunctions syndrome 1
- multiple mitochondrial dysfunctions syndrome 10
- multiple mitochondrial dysfunctions syndrome 2
- multiple mitochondrial dysfunctions syndrome 3
- multiple mitochondrial dysfunctions syndrome 4
- multiple mitochondrial dysfunctions syndrome 5
- multiple mitochondrial dysfunctions syndrome 6
- multiple mitochondrial dysfunctions syndrome 7
- multiple mitochondrial dysfunctions syndrome 9b
Other names
1 name
Resolves to: fatal multiple mitochondrial dysfunctions syndrome
- Also called
- multiple mitochondrial dysfunctions syndrome