What is PHOSPHOGLYCERATE KINASE 1 DEFICIENCY?

rare X-linked recessive mutation in the PGK1 gene

PHOSPHOGLYCERATE KINASE 1 DEFICIENCY

Disease	PHOSPHOGLYCERATE KINASE 1 DEFICIENCY
Synonym	PGK1 DEFICIENCY
OMIM	300653 OMIM = Online Mendelian Inheritance of Men
Orphanet	713
Protein (UniProt)	Phosphoglycerate kinase 1
Gene locus	Xq21.1
ICD	E74.0
Summary	rare X-linked recessive mutation in the PGK1 gene
Laboratory findings	Bilirubin inc (serum) Creatine kinase normal/inc (serum) Hemoglobine dec (blood) Myoglobin normal/inc (urine)
Symptoms	anemia ataxia developmental delay exercise intolerance headache (severe, recurrent or occipital, migraine) hemiparesis/hemiplegia/hemiparetic cerebral palsy hemolytic anemia intellectual disability/intellectual developmental disorder mental retardation muscle cramps muscle weakness myopathy onset, adolescent onset, childhood onset, infancy pain, muscle paresis renal failure, acute/chronic retinal dystrophy rhabdomyolysis seizures speech development, delayed, abnormal vision loss