Disease: Renal carnitine transport defect ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		0.010 Biomarker disease BEFREE That brain carnitine deficiency might cause autism is suggested by reports of severe carnitine deficiency in autism and by evidence that TMLHE deficiency - a defect in carnitine biosynthesis - is a risk factor for autism. 28703319 2017