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Summary
PHOSPHOSERINE PHOSPHATASE DEFICIENCY (PSPH)
PSPHD
614023
OMIM = Online Medalian Inheritance of Men
79350
7p11.2
  • serine supplementation
very rare
autosomal recessive
mutation in the PSPH gene
symptoms
cerebral atrophy
growth retardation
intellectual disability/intellectual developmental disorder (ID/ IDD)
microcephaly (<2 SD for age)
motor retardation
neuropathy
onset, infancy
psychomotor retardation
seizures
laboratory finding
L-Serine decreasedplasma
L-Serine decreasedcerebrospinal fluid
Glycine decreasedplasma
EEG abnormalities -
Literature
Bollig GMcArdles disease (glycogen storage disease type V) and anesthesia--a case report and review of the literaturePaediatr Anaesth239817-8232013
Makela Set al.SLC26A3 mutations in congenital chloride diarrheaHum Mutat200425-4382002
Khan SNYaish HMMisdiagnosis of congenital chloride-losing diarrheaJ Perinatol122112-1141992
Nogales-Gadea G,et al.Exercise and Preexercise Nutrition as Treatment for McArdle DiseaseMed Sci Sports Exerc484673-6792016
Keel BR,Brit MMcArdles disease: a clinical review and case reportTenn Med1061033-372013
Canani RBet al.Butyrate as an effective treatment of congenital chloride diarrheaGastroenterology1272630-6342004
Li WCet al.Congenital chloride diarrhea in a childJ Formos Med Assoc1026424-4282003
Dawson PAMarkovich DPathogenetics of the human SLC26 transportersCurr Med Chem124385-3962005