PHOSPHOGLYCERATE KINASE 1 DEFICIENCY | |
PGK1 DEFICIENCY | |
300653
OMIM = Online Mendelian Inheritance of Men | |
713 | |
Phosphoglycerate kinase 1 | |
Xq21.1 |
|
E74.0 | |
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 |