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Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A

Summary

Mitochondrial complex V deficiency nuclear type 4A (MC5DN4A) is an autosomal dominant metabolic disorder characterized by poor feeding and failure to thrive in early infancy. Laboratory studies show increased serum lactate, alanine, and ammonia, suggesting mitochondrial dysfunction. Some affected individuals show spontaneous resolution of these symptoms in early childhood and have subsequent normal growth and development, whereas others show developmental delay with impaired intellectual development and movement abnormalities, including dystonia, ataxia, or spasticity; these neurologic deficits are persistent (Lines et al., 2021, Zech et al., 2022). For a discussion of genetic heterogeneity of mitochondrial complex V deficiency, nuclear types, see MC5DN1 (604273). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: ATP5A, ATP5A1, ATP5AL2, ATPM, COXPD22, HEL-S-123m, MC5DN4, MC5DN4A, MC5DN4B, MOM2, OMR, ORM, hATP1, ATP5F1A
    Summary: ATP synthase F1 subunit alpha

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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