CPT1A, carnitine palmitoyltransferase 1A, 1374

N. diseases: 143; N. variants: 61
Disease: Hypoglycemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		0.150 GeneticVariation disease BEFREE Homozygosity for the c.1436C→T sequence variant of CPT1A impairs fasting ketogenesis, and can cause hypoketotic hypoglycemia in young children. 21763168 2011
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		0.150 Biomarker disease BEFREE Because CPT1A is involved in lipid metabolism and CPT1A deficiency in human is associated with the hypoketotic hypoglycemia disorder, the reduced CPT1A expression in hESC-NPCs raises a potential concern for the suitability of these cells in cell transplantation. 16870691 2006
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		0.150 Biomarker disease BEFREE CPT1-A deficiency presents as recurrent attacks of fasting hypoketotic hypoglycemia. 15363638 2005
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		0.150 GeneticVariation disease BEFREE Organization of the human liver carnitine palmitoyltransferase 1 gene ( CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia. 12189492 2002
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		0.150 Biomarker disease BEFREE L-CPT1 deficiency (13 families reported) presents as recurrent attacks of fasting hypoketotic hypoglycemia. 10607472 1999
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		0.150 Biomarker disease HPO