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Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria

Synonyms
Encephalomyopathy; MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH OR WITHOUT METHYLMALONIC ACIDURIA, AUTOSOMAL RECESSIVE, SUCLA2-RELATED; Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria); Mitochondrial encephalomyopathy aminoacidopathy
Modes of inheritance
Mitochondrial inheritance (Orphanet)

Summary

Excerpted from the GeneReview: SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria
SUCLA2-related mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria (SUCLA2-related mtDNA depletion syndrome) is characterized by onset of the following features in infancy: developmental delay, hypotonia, dystonia, muscular atrophy, sensorineural hearing impairment, growth failure, and feeding difficulties. Other less frequent features include choreoathetosis, muscle weakness, recurrent vomiting, ptosis, and kyphoscoliosis. The median survival is age 20 years; approximately 30% of affected individuals succumb during childhood.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Ayman W El-Hattab
Fernando Scaglia
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Available tests

77 tests are in the database for this condition.

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Clinical tests (77 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: A-BETA, A-SCS, LINC00444, MTDPS5, SCS-betaA, SUCLA2
    Summary: succinate-CoA ligase ADP-forming subunit beta

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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