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Summary
PHOSPHOGLYCERATE KINASE 1 DEFICIENCY
PGK1 DEFICIENCY
300653
OMIM = Online Medalian Inheritance of Men
713
Xq21.1
rare
X-linked recessive
mutation in the PGK1 gene
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 (ID/ IDD)
mental retardation
muscle cramps
muscle weakness
myopathy
onset, adolescent
onset, childhood
onset, infancy
pain, muscle
renal failure, acute/chronic
retinal dystrophy
rhabdomyolysis
seizures
speech development, delayed, abnormal
vision loss
laboratory finding
Hemoglobine g/dlblood
Bilirubin -Ámol/lserum
Myoglobin mmol/mol creatinineurine
Creatine kinase U/lserum
Literature
Kuster A,et al.Prenatal Hypertrophic Cardiomyopathy due to Danon DiseaseJournal of Inborn Errors of Metabolism and Screening, 13th International Congress of Inborn Errors of Metabolism, Rio de Janeiro, Brazil002017
El-Hattab AW,Scaglia FMitochondrial CardiomyopathiesFront Cardiovasc Med30252016
Cantwell RJCongenital sensori-neural deafness associated with onycho-osteo dystrophy and mental retardation (D.O.O.R. syndrome)Humangenetik263261-2651975
Leon E,et al.Extending the Phenotypic Spectrum of Sengers Syndrome: Severe Case Presenting With Cardiogenic Shock and Synthetic Liver Dysfunction in a NewbornJournal of Inborn Errors of Metabolism and Screening, 13th International Congress of Inborn Errors of Metabolism, Rio de Janeiro, Brazil002017
Kosuga M,Okuyama T.Deafness-onycho-osteodystrophy-retardation-seizures (DOORS)Ryoikibetsu Shokogun Shirizu330537-5382001
El-Hattab AW,Scaglia FMitochondrial CardiomyopathiesFront Cardiovasc Med30252016
Braczynski AK,et al.ATP synthase deficiency due to TMEM70 mutation leads to ultrastructural mitochondrial degeneration and is amenable to treatmentBiomed Res Int201504625922015
Bos CJ,et al.DOOR syndrome: additional case and literature reviewClin Dysmorphol3115-201994