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Summary
PHOSPHOSERINE PHOSPHATASE DEFICIENCY
PSPHD
614023
OMIM = Online Medalian Inheritance of Men
79350
7p11.2
  • serine supplementation
very rare
autosomal recessive
symptoms
growth retardation
microcephaly (<2 SD for age)
motor retardation
laboratory finding
L-Serine decreasedplasma
L-Serine decreasedcerebrospinal fluid
Literature
Makela Set al.SLC26A3 mutations in congenital chloride diarrheaHum Mutat200425-4382002
Khan SNYaish HMMisdiagnosis of congenital chloride-losing diarrheaJ Perinatol122112-1141992
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