1. Genes and Genomic Entities
  2. PFKL

PFKL

phosphofructokinase, liver type
OMIM: 171860, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Red PFKL in Ketotic hypoglycaemia

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.9

review Unknown
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Glycogen Storage Disease
  • Hemolytic anemia due to phosphofructokinase deficiency