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]

Classically presents as megaloblastic anaemia, with absence of neurological signs. Common causes include malabsorption, drugs and toxins, states of increased demand, and dietary deficiency. [bestpractice.bmj.com]

[…] with methods of the present teachings. [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]

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]

• 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]

  […] to normal development without anemia. [orpha.net]

  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 ). [ghr.nlm.nih.gov]

  International Review of Pediatrics 205(1): 1-11, 1965 Formiminotransferase deficiency syndrome associated with megaloblastic anemia responsive to pyridoxine or folic acid. [eurekamag.com]

  Features of a severe phenotype, first identified in patients of Japanese descent, include elevated levels of formiminoglutamate (FIGLU) in the urine in response to histidine administration, megaloblastic anemia, and mental retardation. [ncbi.nlm.nih.gov]

• 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]

  delay, intellectual disability and anemia to normal development without anemia. [orpha.net]

• Asymptomatic

  Include family history, clinical condition (asymptomatic or acute episode), diet, and drug therapy information. [marshfieldlabs.org]

  Glutamate formiminotransferase deficiency presents as a clinical spectrum that ranges from asymptomatic to severe. [mayomedicallaboratories.com]

  Most subjects remain asymptomatic. [pliem.co.za]

  Variable clinical manifestations including: 1) death in the first year of life; 2) developmental delay; 3) neurologic and psychiatric disease; 4) thrombotic events; 5) asymptomatic Gene/location: MTHFR/ Chr. 1p36.3 Common polymorphisms: 677CT; 1298A [slideplayer.com]

• Developmental Disorder

  Abstract Autism is a neuro-developmental disorder characterized by deficits in social interaction and communication as well as restricted interests or repetitive behaviors. [mitoaction.org]

  Rett's disorder A pervasive developmental disease that is a neurological and developmental disorder that mostly occurs in females and is caused_by a mutation on the MECP2 gene on the X chromosome. [amp.pharm.mssm.edu]

• Vomiting

  A clinical presentation of a metabolic disorder, often first seen in infants who present with poor feeding, vomiting, tachypnea, acidosis, hyperammonemia, ketosis, ketonuria, irritability, and convulsions or hypotonia and lethargy, findings that are otherwise [journals.sbmu.ac.ir]

  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]

  These crises associate cephalalgia, vomiting and sometimes pseudo-stroke signs, such as confusion, hemiparesia and hemianopsia. [pliem.co.za]

  […] combined immunodeficiency disease Dihydropyrimidinase deficiency Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting [amp.pharm.mssm.edu]

  […] syndrome Diaphragmatic hernia-hypertelorism-myopia-deafness syndrome Diaphragmatic spinal muscular atrophy Diaphyseal dysplasia - anemia Diaphyseal medullary stenosis - bone malignancy Diaphyseal medullary stenosis - malignant fibrous histiocytoma Diarrhea-vomiting [csbg.cnb.csic.es]

• Psychomotor Retardation

  A more severe phenotype has been described in five members of a Japanese family and included severe intellectual deficit, psychomotor retardation and megaloblastic anemia. [orpha.net]

  Autosomal recessive bestrophinopathy Autosomal recessive centronuclear myopathy Autosomal recessive cerebellar ataxia - cognitive defect Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit Autosomal recessive cerebellar ataxia - psychomotor [csbg.cnb.csic.es]

  Clinical signs are non-specific and include psychomotor retardation, epileptic seizures, and behavioral disorders similar to autism. All of these may be associated with growth retardation and amyotrophy. [amp.pharm.mssm.edu]

• Seizure

  There are over 200 inherited disorders that are associated with seizures and prompt identification and intervention is crucial for a positive outcome. [books.google.com]

  […] hydroxykynureninuria Valinuria Hyperleucine-isoleucinuria Dihydrolipoyl dehydrogenase(E3) deficiency Beta-hydroxyisobutyryl CoA deacylase deficiency Histidinuria Hartnup syndrome Lysinuric protein intolerance Alpha-ketoadipic aciduria Saccharopinuria Seizures-intellectual [metascreen.com.mm]

  The clinical symptoms vary, with developmental delay accompanied by motor and gait abnormalities, seizures, and psychiatric manifestations being described. The age of onset has ranged from the neonatal period to adulthood. [ommbid.mhmedical.com]

  The clusters of nocturnal motor seizures are often stereotyped and brief. [amp.pharm.mssm.edu]

• Convulsions

  A clinical presentation of a metabolic disorder, often first seen in infants who present with poor feeding, vomiting, tachypnea, acidosis, hyperammonemia, ketosis, ketonuria, irritability, and convulsions or hypotonia and lethargy, findings that are otherwise [journals.sbmu.ac.ir]

  The second type has no or mild mental retardation, sometimes speech problems and/or convulsions. [docslide.com.br]

  Clinical signs - which are close to those seen in methyl malonic acidemia -appear soon after birth and include ketoacidotic coma, hyperammonemia and convulsions. [pliem.co.za]

  Benign familial infantile epilepsy Benign familial infantile seizures Benign familial neonatal convulsions Benign familial neonatal epilepsy Benign familial neonatal seizures Benign familial neonatal-infantile seizures Benign focal amyotrophy Benign [csbg.cnb.csic.es]

  Infantile convulsions and paroxysmal choreoathetosis, familial Periodontitis, aggressive, 1 Frank Ter Haar syndrome Dilated cardiomyopathy 1LL Short stature, optic nerve atrophy, and pelger-huet anomaly Myopathy, centronuclear, 5 Alzheimer disease, familial [amp.pharm.mssm.edu]

• Dystonia

  Dystonia 10 Dystonia 16 Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism. [amp.pharm.mssm.edu]

  12 Dystonia 16 Dystonia 18 Dystonia musculorum deformans Dystonia-parkinsonism, Paisan-Ruiz type Dystrophic epidermolysis bullosa inversa Dystrophic epidermolysis bullosa pruriginosa Dystrophic epidermolysis bullosa, nails only DYT1 DYT11 DYT12 DYT16 [csbg.cnb.csic.es]

  […] dominant Hyperchylomicronemia Hyperinsulinaemia, association with, G6PC2 related Hyperinsulinemic hypoglycemia Hyperinsulinism, UCP2 related Hyperlipidemia, familial combined, susceptibility to Hyperlipoproteinemia Hyperlysinemia Hypermanganesemia with dystonia [qlinics.com]

  If left untreated, neurologic crises with porphyria, polyneuritis and dystonia may occur in the acute form of the disorder and in rare cases may be the presenting features of the disease. Malignant hepatocellular carcinomas are frequent. [pliem.co.za]

• Dysarthria

  Hyperparathyroidism, neonatal severe Mental retardation, autosomal dominant 28 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis X-Linked mental retardation 90 Mental retardation X-linked syndromic 5 Cutis laxa-corneal clouding-oligophrenia [amp.pharm.mssm.edu]

  Sensorineural deafness with dilated cardiomyopathy Sensorineural deafness with imperforate anus and hypoplastic thumbs Sensorineural hearing loss - pontobulbar palsy Sensorineural hearing loss with dilated cardiomyopathy Sensory ataxic neuropathy - dysarthria [csbg.cnb.csic.es]

• Spastic Quadriplegia

  quadriplegia Congenital ichthyosis - intellectual deficit - spastic tetraplegia Congenital ichthyosis type 4 Congenital IGHD type IA Congenital IGHD type IB Congenital IGHD type II Congenital insensitivity to pain and thermal analgesia Congenital intestinal [csbg.cnb.csic.es]

  SCID due to ADA deficiency, delayed onset Ichthyosis, spastic quadriplegia, and mental retardation Mitochondrial diseases Mohr-Tranebjaerg syndrome A mitochondrial metabolism disease that is characterized by hearing loss that begins early in life, problems [amp.pharm.mssm.edu]

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]

Some babies may also need additional treatments if there are complications. [ Read More ] [icdlist.com]

Treatment response was measured and compared with a wait-list control group. [mitoaction.org]

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]

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]

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]

[…] 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]

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]

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]

Get optimal test results with guidance on error detection, correction, and prevention as well as cost-effective test selection. [books.google.com]

[…] 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]

There are currently no treatments known to prevent or delay the signs and symptoms of glutamate formiminotransferase deficiency. [1] Last updated: 8/10/2016 This table lists symptoms that people with this disease may have. [rarediseases.info.nih.gov]

Treatment There are currently no treatments available to prevent or delay the signs and symptoms of formiminoglutamic acidemia (FIGLU). [babysfirsttest.org]