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Glutamate formiminotransferase deficiency

MedGen UID:
82823
Concept ID:
C0268609
Disease or Syndrome
Synonyms: Arakawa syndrome 1; Formiminoglutamic acidemia; Formiminoglutamic aciduria; Formiminoglutamicaciduria (FIGLU-uria); Formiminotransferase Deficiency; Formiminotransferase deficiency syndrome
SNOMED CT: Deficiency of glutamate formiminotransferase (59761008); Deficiency of glutamate formyltransferase (59761008); Glutamate formiminotransferase deficiency (59761008); FIGLUria (59761008); Formiminoglutamic aciduria (59761008)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): FTCD (21q22.3)
 
Monarch Initiative: MONDO:0009240
OMIM®: 229100
Orphanet: ORPHA51208

Definition

Glutamate formiminotransferase deficiency is an autosomal recessive disorder and the second most common inborn error of folate metabolism. Features of a severe phenotype include elevated levels of formiminoglutamate (FIGLU) in the urine in response to histidine administration, megaloblastic anemia, and mental retardation. Features of a mild phenotype include high urinary excretion of FIGLU in the absence of histidine administration, mild developmental delay, and no hematologic abnormalities (summary by Hilton et al., 2003). [from OMIM]

Additional description

From MedlinePlus Genetics
Glutamate formiminotransferase deficiency is an inherited disorder that affects physical and mental development. There are two forms of this condition, which are distinguished by the severity of symptoms.

People with the mild form of glutamate formiminotransferase deficiency have minor delays in physical and mental development and may have mild intellectual disability. They also have unusually high levels of a molecule called formiminoglutamate (FIGLU) in their urine.

Individuals affected by the severe form of this disorder have profound intellectual disability and delayed development of motor skills such as sitting, standing, and walking. In addition to FIGLU in their urine, they have elevated amounts of certain B vitamins (called folates) in their blood.

The severe form of glutamate formiminotransferase deficiency is also characterized by megaloblastic anemia. Megaloblastic anemia occurs when a person has a low number of red blood cells (anemia), and the remaining red blood cells are larger than normal (megaloblastic). The symptoms of this blood disorder may include decreased appetite, lack of energy, headaches, pale skin, and tingling or numbness in the hands and feet.  https://medlineplus.gov/genetics/condition/glutamate-formiminotransferase-deficiency

Clinical features

From HPO
Aminoaciduria
MedGen UID:
116067
Concept ID:
C0238621
Disease or Syndrome
An increased concentration of an amino acid in the urine.
Elevated urinary formiminoglutamic acid level
MedGen UID:
1841630
Concept ID:
C5826631
Finding
The concentration of formiminoglutamic acid in the urine, normalized for urine concentration, is above the upper limit of normal.
Growth delay
MedGen UID:
99124
Concept ID:
C0456070
Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Megaloblastic anemia
MedGen UID:
1527
Concept ID:
C0002888
Disease or Syndrome
Anemia characterized by the presence of erythroblasts that are larger than normal (megaloblasts).
Hypersegmentation of neutrophil nuclei
MedGen UID:
870828
Concept ID:
C4025288
Finding
An excessive division of the lobes of the nucleus of a neutrophil.
Positive ferric chloride test
MedGen UID:
871120
Concept ID:
C4025589
Finding
If positive, the ferric chloride test indicates an increased concentration of phenols in the urine or blood.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGlutamate formiminotransferase deficiency
Follow this link to review classifications for Glutamate formiminotransferase deficiency in Orphanet.

Recent clinical studies

Diagnosis

Sudrié-Arnaud B, Snanoudj S, Imbard A, Dabaj I, Tebani A
Clin Chem 2021 Apr 29;67(5):799-801. doi: 10.1093/clinchem/hvab012. PMID: 33928370
Majumdar R, Yori A, Rush PW, Raymond K, Gavrilov D, Tortorelli S, Matern D, Rinaldo P, Feldman GL, Oglesbee D
Mol Genet Genomic Med 2017 Nov;5(6):795-799. Epub 2017 Sep 11 doi: 10.1002/mgg3.333. PMID: 29178637Free PMC Article
Solans A, Estivill X, de la Luna S
Cytogenet Cell Genet 2000;88(1-2):43-9. doi: 10.1159/000015483. PMID: 10773664

Prognosis

Majumdar R, Yori A, Rush PW, Raymond K, Gavrilov D, Tortorelli S, Matern D, Rinaldo P, Feldman GL, Oglesbee D
Mol Genet Genomic Med 2017 Nov;5(6):795-799. Epub 2017 Sep 11 doi: 10.1002/mgg3.333. PMID: 29178637Free PMC Article

Clinical prediction guides

Majumdar R, Yori A, Rush PW, Raymond K, Gavrilov D, Tortorelli S, Matern D, Rinaldo P, Feldman GL, Oglesbee D
Mol Genet Genomic Med 2017 Nov;5(6):795-799. Epub 2017 Sep 11 doi: 10.1002/mgg3.333. PMID: 29178637Free PMC Article

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