Disease: Lactic Acidosis, Fatal Infantile ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3502298
Disease: Lactic Acidosis, Fatal Infantile
Lactic Acidosis, Fatal Infantile 		0.020 GeneticVariation disease BEFREE In this report, we describe a patient with fatal infantile lactic acidosis associated with mutations in the SUCLG1 gene and mtDNA depletion. 21093335 2011
CUI: C3502298
Disease: Lactic Acidosis, Fatal Infantile
Lactic Acidosis, Fatal Infantile 		0.020 GeneticVariation disease BEFREE Mutations in SUCLG1, encoding the alpha subunit of the enzyme, have been reported in only one family, where a homozygous 2 bp deletion was associated with fatal infantile lactic acidosis. 19526370 2010