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GTR Home > Conditions/Phenotypes > Mitochondrial DNA depletion syndrome 9

Mitochondrial DNA depletion syndrome 9

Synonyms
Fatal Infantile Lactic Acidosis; Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria); SUCLG1-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Mild Methylmalonic Aciduria
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: SUCLG1-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria
SUCLG1-related mitochondrial DNA (mtDNA) depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterized in the majority of affected newborns by hypotonia, muscle atrophy, feeding difficulties, and lactic acidosis. Affected infants commonly manifest developmental delay / cognitive impairment, growth retardation / failure to thrive, hepatopathy, sensorineural hearing impairment, dystonia, and hypertonia. Notable findings in some affected individuals include hypertrophic cardiomyopathy, epilepsy, myoclonus, microcephaly, sleep disturbance, rhabdomyolysis, contractures, hypothermia, and/or hypoglycemia. Life span is shortened, with median survival of 20 months.
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

74 tests are in the database for this condition.

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Clinical tests (74 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: GALPHA, MTDPS9, SUCLA1, SUCLG1
    Summary: succinate-CoA ligase GDP/ADP-forming subunit alpha

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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Reviews

Clinical resources

Practice guidelines

  • ACMG ACT, 2022
    American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated C3 Acylcarnitine, Propionic Acidemia (PA) and Methylmalonic Acidemia (MMA), 2022
  • ACMG Algorithm, 2022
    American College of Medical Genetics and Genomics, Algorithm, Propionic and Methylmalonic Acidemia: C3 Elevated, 2022

Molecular resources

Consumer resources

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