fatal multiple mitochondrial dysfunctions syndrome
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.
MONDO:0018424
inherited lipoic acid biosynthesis defect
is_a
MMDS
related
fatal multiple mitochondrial dysfunction syndrome
related
multiple mitochondrial dysfunctions syndrome
exact
SPCC4B3.11c SPCC645.03c SPBC1709.19c SPBC3B9.17 SPBP19A11.01 SPBP23A10.15c SPAC806.02c SPAC21E11.07 SPBC3B8.01c