Multiple mitochondrial dysfunctions syndrome 2

Common Name(s)

Multiple mitochondrial dysfunctions syndrome 2

Multiple mitochondrial dysfunctions syndrome-2 (MMDS2) with hyperglycinemia is a severe autosomal recessive disorder characterized by developmental regression in infancy. Affected children have an encephalopathic disease course with seizures, spasticity, loss of head control, and abnormal movement. Additional more variable features include optic atrophy, cardiomyopathy, and leukodystrophy. Laboratory studies show increased serum glycine and lactate. Most patients die in childhood. The disorder represents a form of 'variant' nonketotic hyperglycinemia and is distinct from classic nonketotic hyperglycinemia (NKH, or GCE; {605899}), which is characterized by significantly increased CSF glycine. Several forms of 'variant' NKH, including MMDS2, appear to result from defects of mitochondrial lipoate biosynthesis (summary by {1:Baker et al., 2014}). For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 ({605711}).
 

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Study of Dapagliflozin on Mitochondrial Dysfunction and Impaired Insulin Signaling/Action
 

Status: Recruiting

Condition Summary: Insulin Sensitivity; Multiple Mitochondrial Dysfunctions Syndrome

 

Last Updated: 20 Jan 2017

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