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Summary
GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY
FORMIMINOTRANSFERASE DEFICIENCY
229100
OMIM = Online Medalian Inheritance of Men
51208
21q22.3
rare
autosomal recessive
mutation in the FTCD gene
symptoms
anemia
hypotonia
mental retardation
no clinical signs or symptoms
laboratory finding
Formiminoglutamic acid (FIGLU)0.000.00 increasedurine
Hydantoin-5-propionic acid0.000.00 increasedurine
Folate normal-increasedserum
Literature
Desnick RJAstrin KHCongenital erythropoietic porphyria: advances in pathogenesis and treatmentBr J Haematol1174779-7952002
Servedio Vet al.Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype-phenotype correlationHum Mutat2533252005
Gupta Ret al.Crigler-najjar syndrome type IIIndian J Pediatr71110432004
Sampietro MIolascon AMolecular pathology of Crigler-Najjar type I and II and Gilberts syndromesHaematologica842150-1571999
Drenth JPPeters WH, Jansen JBFrom gene to disease unconjugated hyperbilirubinemia: Gilberts syndrome and Crigler-Najjar types I and IINed Tijdschr Geneeskd143321488-14902002
Servedio Vet al.Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype-phenotype correlationHum Mutat2533252005
Sampietro MIolascon AMolecular pathology of Crigler-Najjar type I and II and Gilberts syndromesHaematologica842150-1571999
Drenth JPPeters WH, Jansen JBFrom gene to disease unconjugated hyperbilirubinemia: Gilberts syndrome and Crigler-Najjar types I and IINed Tijdschr Geneeskd143321488-14902002