ECHS1, enoyl-CoA hydratase, short chain 1, 1892

N. diseases: 93; N. variants: 26
Disease: Acidosis, Lactic ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		0.010 Biomarker phenotype BEFREE Our report highlights the need to consider SCEH deficiency in patients with lethal neonatal lactic acidosis, and the potentially limited sensitivity of untargeted genomic sequencing towards non-canonical splicing mutations, which may explain at least some of the 'negative' cases on clinical exome/genome sequencing. 27905109 2017