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

More general terms

• lactic acidosis

Database

• OMIM: https://mirror.omim.org/entry/245349
• OMIM: https://mirror.omim.org/entry/245400