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Fatal multiple mitochondrial dysfunctions syndrome

MONDO:0017338

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.

Also known as: multiple mitochondrial dysfunctions syndrome, MMDS, fatal multiple mitochondrial dysfunction syndrome

50 clinical trials for this condition and its sub-types.

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Sub-types

Multiple mitochondrial dysfunctions syndrome 1 (0) Multiple mitochondrial dysfunctions syndrome 10 (0) Multiple mitochondrial dysfunctions syndrome 2 (0) Multiple mitochondrial dysfunctions syndrome 3 (0) Multiple mitochondrial dysfunctions syndrome 4 (0) Multiple mitochondrial dysfunctions syndrome 5 (0) Multiple mitochondrial dysfunctions syndrome 6 (0) Multiple mitochondrial dysfunctions syndrome 7 (0) Multiple mitochondrial dysfunctions syndrome 9b (0)

Broader categories

Disease (618) Metabolic disease (215) Hereditary disease (172) Inherited lipid metabolism disorder (165) Inborn mitochondrial metabolism disorder (57) Inborn errors of metabolism (42) Mitochondrial disease (39) Human disease (14) Developmental defect during embryogenesis (7) Inherited fatty acid metabolism disorder (6)
Trials to join now! 21 Not yet recruiting 5 Not yet finished but already full! 7 Completed 16 Terminated 1
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