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GTR Home > Conditions/Phenotypes > Cardiomyopathy-hypotonia-lactic acidosis syndrome

Cardiomyopathy-hypotonia-lactic acidosis syndrome

Synonyms
Mitochondrial phosphate carrier deficiency
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Mitochondrial phosphate carrier deficiency (MPCD) is an autosomal recessive disorder characterized by onset of cardiorespiratory insufficiency soon after birth. Patients usually require intervention in the neonatal period. The disorder may result in death in infancy, although those that survive have stabilization or amelioration of symptoms with age. Most affected individuals have hypotonia, delayed motor development, and exercise intolerance, but cognitive development is normal. Laboratory studies typically show increased serum lactate, although this may not be present. Muscle biopsy shows abnormal mitochondria and lipid accumulation. There is phenotypic variability likely depending on the location of the mutation (summary by Bhoj et al., 2015). [from OMIM]

Available tests

31 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (31 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: OK/SW-cl.48, PHC, PTP, PiC, SLC25A3
    Summary: solute carrier family 25 member 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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