Mitochondrial Dna Depletion Syndrome 5 (MTDPS5)

Alias:

Succinate-Coa Ligase Deficiency

Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria

Mtdps5

Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, with or Without Methylmalonic Aciduria, Autosomal Recessive, Sucla2-Related

Mitochondrial Dna Depletion Syndrome Encephalomyopathic Form with or Without Methylmalonic Aciduria Autosomal Recessive Sucla2-Related

Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, with Methylmalonic Aciduria, Autosomal Recessive

Mitochondrial Dna Depletion Syndrome 5 Encephalomyopathic with or Without Methylmalonic Aciduria

Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, with Mild Methylmalonic Aciduria

Encephalomyopathic Mitochondrial Dna Depletion Syndrome with or Without Methylmalonic Aciduria

Mitochondrial Dna Depletion, Encephalomyopathic Form, with Methylmalonic Aciduria

Mtdna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria

Mitochondrial Encephalomyopathy-Aminoacidopathy Syndrome

Mitochondrial Dna Depletion Syndrome, Type 5

Succinate-Coenzyme a Ligase Deficiency

Booth-Haworth-Dilling Syndrome

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Mitochondrial Dna Depletion Syndrome 5, also known as succinate-coa ligase deficiency, is related to mitochondrial dna depletion syndrome 9 and methylmalonic acidemia, and has symptoms including athetosis, muscle spasticity and ophthalmoplegia. An important gene associated with Mitochondrial Dna Depletion Syndrome 5 is SUCLA2 (Succinate-CoA Ligase ADP-Forming Subunit Beta), and among its related pathways/superpathways are glycolysis (BioCyc) and Pyruvate metabolism. Affiliated tissues include brain and skeletal muscle, and related phenotypes are seizure and ptosis

Related ID：

MALACARDS：MTC059

OMIM：612073

MESH：C567624