Mitochondrial complex IV deficiency, nuclear type 19

Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the PET117 gene. It is characterized by the onset of symptoms in infancy or early childhood. Affected individuals show global developmental delay and developmental regression with a loss of acquired motor and language skills. Additional features include motor dysfunction, such as hypokinesia and pyramidal signs. More variable features may include recurrent infections with immunodeficiency and possibly protein-losing enteropathy.

Also known as: MC4DN19, mitochondrial complex IV deficiency, nuclear type 19

13 clinical trials for this condition and its sub-types, 0 tagged with Mitochondrial complex IV deficiency, nuclear type 19 itself.