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Glutamate Formiminotransferase Deficiency

Formiminoglutamic Aciduria


Presentation

  • This text brings together leading authorities presenting state-of-the-art clinical reviews covering the science, recognition, and treatment of the inherited metabolic epilepsies and related disorders.[books.google.com]
  • It is still disputed whether the enzyme is absent or present in red blood cells. In cultured human cells the enzyme activity is absent.[docslide.com.br]
  • The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • Acronym FIGLU-URIA Synonyms Formiminoglutamicaciduria Formiminoglutamic aciduria Formiminotransferase deficiency Any medical or genetic information present in this entry is provided for research, educational and informational purposes only.[uniprot.org]
Developmental Delay
  • Features of a mild phenotype include high urinary excretion of FIGLU in the absence of histidine administration, mild developmental delay, and no hematological abnormalities.[ncbi.nlm.nih.gov]
  • Homepage Rare diseases Search Search for a rare disease Formiminoglutamic aciduria Disease definition Formiminoglutamic aciduria, in its moderate form and in the absence of histidine administration, is characterized by mild developmental delay and elevated[orpha.net]
Physician
  • […] medical schoolshematology departments now encompass oncology - an important topic that is not covered elsewhere inthe medical curriculum.This new edition also adds many tables and figures relating to differentialdiagnosis that will be useful to practicing physicians[books.google.com]
  • This information is not intended to be patient education, does not create any patient-physician relationship, and should not be used as a substitute for professional diagnosis and treatment.[diseaseinfosearch.org]
  • In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers.[rarediseases.info.nih.gov]
  • Trans Assoc Am Physicians. 1962;75:307-20. Folate, a B vitamin, is present in natural foods such as green vegetables, legumes, and some fruits. Deficiency arises due to malabsorption, drugs and toxins, increased demand, or dietary deficiency.[bestpractice.bmj.com]
Recurrent Otitis Media
  • From the age of 3 months he exhibited recurrent otitis media and severe pulmonary infections. He had a peculiar narrow-headed look and marked universal hypotonia. The mental development was slightly retarded.[ncbi.nlm.nih.gov]
Congestive Heart Failure
  • Severe congenital neutropenia 6, autosomal recessive Dyggve-Melchior-Clausen syndrome Congenital disorder of glycosylation type 1Q Cardiac arrest A congestive heart failure characterized by a sudden stop in effective blood circulation due to the failure[amp.pharm.mssm.edu]
  • heart failure X-linked intellectual deficit - cerebellar hypoplasia X-linked intellectual deficit - craniofacial dysmorphism - epilepsy - ophthalmoplegia - cerebellar atrophy X-linked intellectual deficit - dystonia - dysarthria X-linked intellectual[csbg.cnb.csic.es]
Splenectomy
  • Examples include causesof splenomegaly, indications for splenectomy, differential diagnosis of normocytic anemia,macrocytic anemia, hypochromic anemia, thrombocytopenia, bone marrow failure syndromes, and manyothers.[books.google.com]
Erythema
  • […] verruciformis Epidermolysis bullosa letalis Epidermolysis bullosa simplex due to plakophilin deficiency Epidermolysis bullosa simplex of palms and soles Epidermolysis bullosa simplex superficialis Epidermolysis bullosa simplex with circinate migratory erythema[csbg.cnb.csic.es]
Rabies
  • Hilton JF, Christensen KE, Watkins D, Raby BA, Renaud Y, de la Luna S, Estivill X, MacKenzie RE, Hudson TJ, Rosenblatt DS. The molecular basis of glutamate formiminotransferase deficiency. Hum Mutat. 2003 Jul; 22(1):67-73.[connects.catalyst.harvard.edu]
  • Pathway hsa00340 Histidine metabolism hsa00670 One carbon pool by folate Gene FTCD [HSA: 10841 ] [KO: K13990 ] Other DBs ICD-11: 3A02.Y 5C63.1 ICD-10: E70.8 MeSH: C537425 OMIM: 229100 Reference PMID: 12815595 Authors Hilton JF, Christensen KE, Watkins D, Raby[genome.jp]
  • Hilton JF, Christensen KE, Watkins D, Raby BA, Renaud Y, de la Luna S, Estivill X, MacKenzie RE, Hudson TJ, Rosenblatt DS. The molecular basis of glutamate formiminotransferase deficiency. Hum Mutat. 2003 Jul;22(1):67-73.[ghr.nlm.nih.gov]
  • Material Safety Data Sheet (MSDS) Not Available General References Hilton JF, Christensen KE, Watkins D, Raby BA, Renaud Y, de la Luna S, Estivill X, MacKenzie RE, Hudson TJ, Rosenblatt DS: The molecular basis of glutamate formiminotransferase deficiency[hmdb.ca]
  • ., Raby, B. A., Renaud, Y., de la Luna, S., Estivill, X., MacKenzie, R. E., Hudson, T. J., Rosenblatt, D. S. The molecular basis of glutamate formiminotransferase deficiency. Hum. Mutat. 22: 67-73, 2003. Note: Erratum: Hum.[omim.org]
Delayed Development of Motor Skills
  • Individuals with the severe form have profound intellectual disability, delayed development of motor skills (sitting, standing, and walking) and megaloblastic anemia.[diseaseinfosearch.org]
  • 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.[ghr.nlm.nih.gov]
  • The mild form of FIGLU is associated with Mild developmental delay Mild intellectual disability Signs of the severe form of FIGLU include: Severe intellectual disability Delayed development of motor skills such as sitting, standing and walking Decreased[babysfirsttest.org]
Cerebral Calcification
  • Developmental Medicine and Child Neurology 15(1): 81-83, 1973 Latent coeliac disease in a child with epilepsy, cerebral calcifications, drug-induced systemic lupus erythematosus and intestinal folic acid malabsorption associated with impairment of folic[eurekamag.com]
Excitement
  • Meticulously updated, this exciting full-color set brings together the pathophysiology of disease with detailed clinical guidance to provide you with the most comprehensive, authoritative, up-to-date information for diagnosing and treating children.[books.google.com]
  • I am not excited about getting worse before getting better. I don't have a Dr. who can help. I am not as ill as I was 8 years ago but I am not well. I am married to a dentist and I have had lots of mercury fillings in my mouth, he took them all out.[forums.phoenixrising.me]
Tic Disorder
  • Autosomal dominant isolated somatotropin deficiency Triglyceride storage disease with ichthyosis Tourette Syndrome A tic disorder that is characterized by multiple physical (motor) tics and at least one vocal (phonic) tic present for more than a year.[amp.pharm.mssm.edu]

Workup

Macrocytic Anemia
  • Examples include causesof splenomegaly, indications for splenectomy, differential diagnosis of normocytic anemia,macrocytic anemia, hypochromic anemia, thrombocytopenia, bone marrow failure syndromes, and manyothers.[books.google.com]
  • anemia occasionally associated with limb or nail deformities and scoliosis.[amp.pharm.mssm.edu]
Normocytic Anemia
  • Examples include causesof splenomegaly, indications for splenectomy, differential diagnosis of normocytic anemia,macrocytic anemia, hypochromic anemia, thrombocytopenia, bone marrow failure syndromes, and manyothers.[books.google.com]
Megaloblastic Bone Marrow
  • Other features were marked physical retardation, anemia, megaloblastic bone marrow, and biochemical evidence of disturbed folic acid metabolism. Very large amounts of FIGLU were excreted in the urine.[bio2rdf.org]

Treatment

  • CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[diseaseinfosearch.org]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice .[uniprot.org]
  • You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]

Prognosis

  • Nevertheless, the prognosis is generally poor. Functional methionine synthase deficiency due to the cblE and cblG mutations is characterized by homocystinuria and defective biosynthesis of methionine.[ommbid.mhmedical.com]
  • Prognosis of MELAS syndrome is poor.[pliem.co.za]
  • […] examinations or blood testing indicates that their pregnancy may be at increased risk for certain complications or birth defects Couples who are first cousins or other close blood relatives Genetic counselor provides advice about a genetic condition, prognosis[santa.lt]
  • Severe prognosis in a large family with hypokalemic periodic paralysis. Muscle Nerve. 2003 Feb;27(2):165-9. 49) MALVAGIA S, POGGI G.[giuseppetomasello.it]
  • Current treatment involves dietary protein restriction and/or parenteral OHCbl and the prognosis is very variable.[forums.phoenixrising.me]

Etiology

  • […] deficiency Formiminotransferase cyclodeaminase deficiency Glutamate formiminotransferase deficiency Prevalence: Unknown Inheritance: Autosomal recessive Age of onset: Childhood ICD-10: E70.8 OMIM: 229100 UMLS: C0268609 MeSH: - GARD: 9279 MedDRA: - Summary Etiology[orpha.net]
  • Abstract During the past six years an increasing number of liver-cell adenomas in women were diagnosed, and we undertook a study of possible etiologic faciors, including use of oral contraceptives, in 42 women.[nejm.org]
  • Cytogenetic studies have implicated large chromosomal aberrations in the etiology of approximately 5-7% of autism patients, and the recent advent of array-based techniques allows the exploration of submicroscopic copy number variations (CNVs).[mitoaction.org]
  • Disorders of digestion of unknown etiology: frequent vomiting, diarrhoea, hypotrophy, some food intolerance, hepatomegaly, splenomegaly, etc. Urinary system abnormalities: nephrolithiasis in childhood, abnormal odour and color of the urine, etc.[santa.lt]

Epidemiology

  • In this book a team of the world's experts in the field provide a clear, current, clinical analysis of the biochemistry, genetics, and epidemiology of homocysteine disorders, providing a uniquely comprehensive account of the broad range of medical, nutritional[books.google.ro]
  • Relevant External Links for FTCD Genetic Association Database (GAD) FTCD Human Genome Epidemiology (HuGE) Navigator FTCD Atlas of Genetics and Cytogenetics in Oncology and Haematology: FTCD No data available for Genatlas for FTCD Gene Cloning and characterization[genecards.org]
Sex distribution
Age distribution

Pathophysiology

  • Nathan and Oski’s is the only comprehensive product on the market that relates pathophysiology in such depth to hematologic and oncologic diseases affecting children.[books.google.com]
  • Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test Glutamate formiminotransferase deficiency is an autosomal recessive inborn error of folate and histidine metabolism caused by[mayomedicallaboratories.com]

Prevention

  • Get optimal test results with guidance on error detection, correction, and prevention as well as cost-effective test selection.[books.google.com]
  • There are currently no treatments known to prevent or delay the signs and symptoms of glutamate formiminotransferase deficiency. 0003355 Autosomal recessive inheritance 0000007 Growth delay Delayed growth Growth deficiency Growth failure Growth retardation[rarediseases.info.nih.gov]
  • […] pteroylglutamate) dihydrofolate reductase reduces to 7,8-dihydrofolate (DHF) then to 5,6,7,8-tetrahydrofolate (THF), using 2 NADPH dihydrofolate reductase is inhibited by folate analogs methotrexate and aminopterin these are used in treatment of cancer – prevent[d3jonline.tripod.com]
  • Treatment There are currently no treatments available to prevent or delay the signs and symptoms of formiminoglutamic acidemia (FIGLU).[babysfirsttest.org]

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