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congenital infantile lactic acidosis
Genetics:
- associated with defects in DLD, PDHX, SUCLG1
Clinical manifestations:
- variable
- hypotonia
- psychomotor retardation
- onset of lactic acidosis within the first day of life & early death (SUCLG1 defects)
Laboratory:
- blood ammonia, alanine, & pyruvate slightly elevated
- blood lactate varied between 5.9-9.1 mM.
Radiology:
- computed tomography may show bilateral basal ganglia lucencies and symmetrical lacunae in the putamen
General
lactic acidosis
Database Correlations
OMIM correlations
References
- UniProt :accession P09622
- OMIM :accession 245349