Formiminoglutamic Aciduria

Description

Formiminoglutamic aciduria, in its moderate form and in the absence of histidine administration, is characterized by mild developmental delay and elevated concentrations of formiminoglutamate (FIGLU) in the urine. A more severe phenotype has been described in five members of a Japanese family and included severe intellectual deficit, psychomotor retardation and megaloblastic anemia.

Clinical Features

Top most frequent phenotypes and symptoms related to Formiminoglutamic Aciduria

  • Intellectual disability
  • Global developmental delay
  • Growth delay
  • Anemia
  • Aciduria
  • Aminoaciduria
  • Megaloblastic anemia
  • Folate deficiency
  • Megaloblastic bone marrow
  • Hypersegmentation of neutrophil nuclei

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Formiminoglutamic Aciduria Is also known as formiminotransferase cyclodeaminase deficiency, formiminoglutamic aciduria, figlu-uria, ftcd deficiency, formiminotransferase deficiency, glutamate formiminotransferase deficiency.

Researches and researchers

Doctors, researchs, and experts related to Formiminoglutamic Aciduria extracted from public data.

Formiminoglutamic Aciduria Experts map



Current Researchs and researchers

  • AMSTERDAM — Pr H.J. [Henk] BLOM

    Coordinator of research network

    • Institution/s:
      — Amsterdam UMC, locatie VUmc
    • Research area/topic::

      E-HOD - European network and registry for homocystinurias and methylation defects



Mendelian

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Formiminoglutamic Aciduria Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Glutamate formiminotransferase deficiency.

By Centogene AG - the Rare Disease Company (Germany).

FTCD
Specificity
100 %
Genes
100 %
qCarrier Plus.

By Quantitative Genomic Medicine Laboratories, SL (Spain).

RMRP, RP2, RPE65, RPGR, RPS6KA3, RS1, SACS, SGCA, SGCB, SGSH, SLC16A2, SLC22A5, SLC25A13, SLC26A2, SLC3A1, SLC5A5, SLC6A8, KDM5C, SMN1, BTD , (...)

View the complete list with 278 more genes
Specificity
1 %
Genes
100 %
Invitae Organic Acidemias Panel.

By Invitae (United States).

SLC25A1, BTD, SUCLA2, SUCLG1, TAZ, MCEE, MMAA, MMAB, L2HGDH, SERAC1, ETHE1, MMACHC, MMADHC, PPM1K, TMEM70, DBT, ACSF3, D2HGDH, DNAJC19, ETFA , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
100 %
Invitae Metabolic Disorders Newborn Screening Confirmation Panel.

By Invitae (United States).

SLC22A5, SLC25A13, SLC25A15, SMPD1, BTD, SPR, SUCLA2, SUCLG1, TAT, TAZ, SLC25A20, CBS, CD320, MCEE, NAGS, CFTR, MMAA, MMAB, SERAC1, LMBRD1 , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
100 %
Formiminotransferase Deficiency: FTCD Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics (United States).

FTCD
Specificity
100 %
Genes
100 %
Formiminotransferase Deficiency: FTCD Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics (United States).

FTCD
Specificity
100 %
Genes
100 %
FTCD.

By Fulgent Genetics Fulgent Genetics (United States).

FTCD
Specificity
100 %
Genes
100 %
GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY.

By Genera (Brazil).

FTCD
Specificity
100 %
Genes
100 %

We have 0 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET MESH OMIM Rare Disease Search Engine

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