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Summary
GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY FORMIMINOGLUTAMIC ACIDURIA (FIGLU)
FORMIMINOTRANSFERASE DEFICIENCY
229100
OMIM = Online Medalian Inheritance of Men
51208
21q22.3
very rare
autosomal recessive
mutation in the FTCD gene
- severe phenotype (intellectual disability, megaloblastic anemia)
- milder phenotype have been reported
symptoms
anemia
developmental delay
hypotonia
intellectual disability/intellectual developmental disorder (ID/ IDD)
megaloblastic anemia
mental retardation
no consistent clinical signs or symptoms
onset, childhood
onset, infancy
laboratory finding
Formiminoglutamic acid (FIGLU)5.00200.00 mmol/mol creatinineurine
Hydantoin-5-propionic acid0.000.00 mmol/mol creatinineurine
Folate nmol/lserum
Literature
Yamamoto Y,et al.Mitochondrial trifunctional protein deficiency: an adult patient with similar progress to Charcot-Marie-Tooth diseaseRinsho Shinkeigaku57282-872017
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
Fletcher AL,et al.Observations regarding retinopathy in mitochondrial trifunctional protein deficienciesMol Genet Metab106118-242012
Sampietro MIolascon AMolecular pathology of Crigler-Najjar type I and II and Gilberts syndromesHaematologica842150-1571999
Molven A,et al.Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidationDiabetes531221-2272004
Drenth JPPeters WH, Jansen JBFrom gene to disease unconjugated hyperbilirubinemia: Gilberts syndrome and Crigler-Najjar types I and IINed Tijdschr Geneeskd143321488-14902002
Shahrokhi M,et al.Identification of a Novel HADHB Gene Mutation in an Iranian Patient with Mitochondrial Trifunctional Protein DeficiencyArch Iran Med20122-272017
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
Fletcher AL,et al.Observations regarding retinopathy in mitochondrial trifunctional protein deficienciesMol Genet Metab106118-242012
Drenth JPPeters WH, Jansen JBFrom gene to disease unconjugated hyperbilirubinemia: Gilberts syndrome and Crigler-Najjar types I and IINed Tijdschr Geneeskd143321488-14902002