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.de]

In addition, nonmethylTHF and FA were present. [ncbi.nlm.nih.gov]

• Epilepsy

  […] in metabolic epilepsies. [books.google.de]

  Clinical features include variable neurologic symptoms, ranging from severe developmental delay and generalized seizures in infancy, to childhood absence epilepsy with learning difficulties, to lack of symptoms. [malacards.org]

  Three years later, he presented with focal epilepsy as his first clinical impairment. In patient 2, 5-FTHF treatment led to improved school performance, but persistent epilepsy. [ncbi.nlm.nih.gov]

  […] recessive metabolic disorder characterized by the hematologic findings of megaloblastic anemia and variable neurologic symptoms, ranging from severe developmental delay and generalized seizures in infancy ({1:Banka et al., 2011}) to childhood absence epilepsy [diseaseinfosearch.org]

• Developmental Delay

  Clinical features include variable neurologic symptoms, ranging from severe developmental delay and generalized seizures in infancy, to childhood absence epilepsy with learning difficulties, to lack of symptoms. [malacards.org]

  Get Update Overview Dihydrofolate reductase deficiency is an autosomal recessive metabolic disorder characterized by the hematologic findings of megaloblastic anemia and variable neurologic symptoms, ranging from severe developmental delay and generalized [diseaseinfosearch.org]

  The magnitude of the 5p- deletion correlates with the severity of intellectual disability and developmental delay. Within 5p is a key gene, CTNND2, which is associated with intellectual disability. [news-medical.net]

• Fever

  […] leads to lactate production) CAUSES inadequate intake (alcoholics, diet, starvation) decreased absorption (intestinal disease, alcoholism, malnutrition, gastric bypass, folate deficiency) increased consumption (hyperthyroidism, pregnancy, lactation, fever [lifeinthefastlane.com]

  It had a strong action against infections caused by streptococci, including blood infections, childbed fever, and erysipelas. However, it had no effect at all in the test tube, later, it was discovered by Bovet, Federico Nitti and J. and Th. [wikivisually.com]

  Urea Cycle disorder treatment Can be treated by eating low protein diets, decreased catabolism (eat sugar and fat), treat fevers, illness, avoid steroids, Ammonia scavenger medication, liver transplant, possibly gene therapy and hepatocyte infusion in [quizlet.com]

• Pallor

  […] cardiovascular disease + thromboembolic events ) During fetal development: → nucleotide synthesis impairment → neural tube defects → Aberrant DNA methylation → increased risk of cancer References: [3] [4] [5] [6] Clinical features Signs of anemia (e.g., fatigue, pallor [amboss.com]

• Nausea

  Increased destruction: superoxide can inactivate folate Clinical features Symptoms due to anemia: weakness, fatigue, difficulty concentrating, irritability, headache, palpitations, shortness of breath, cardiac failure Gastrointestinal symptoms: anorexia, nausea [pathologyoutlines.com]

  Used to treat alcoholism -> Inhibitor of acetaldehyde dehydrogenase -> accumulation of acetaldehyde -> induces facial flushing, light headedness, palpitations, nausea and headeache upon alcohol consumption. [quizlet.com]

  Cancers 1 2CompletedDiagnostic Upper Gastrointestinal Tumours 1 2CompletedPrevention Human Immunodeficiency Virus (HIV) Infections / Toxoplasmosis, Cerebral 1 2CompletedSupportive Care Colorectal Cancers 1 2CompletedSupportive Care Colorectal Cancers / Nausea [drugbank.ca]

• Vomiting

  […] destruction: superoxide can inactivate folate Clinical features Symptoms due to anemia: weakness, fatigue, difficulty concentrating, irritability, headache, palpitations, shortness of breath, cardiac failure Gastrointestinal symptoms: anorexia, nausea, vomiting [pathologyoutlines.com]

  NADH) CLINICAL FEATURES Dry Beri-Beri bilateral, peripheral sensory and motor neuropathy with weakness and hyporeflexia Wernicke encephalopathy altered mental state ophthalmoplegia with horizontal nystagmus ataxia and vestibular dysfunction fever and vomiting [lifeinthefastlane.com]

  2CompletedDiagnostic Upper Gastrointestinal Tumours 1 2CompletedPrevention Human Immunodeficiency Virus (HIV) Infections / Toxoplasmosis, Cerebral 1 2CompletedSupportive Care Colorectal Cancers 1 2CompletedSupportive Care Colorectal Cancers / Nausea and vomiting [drugbank.ca]

• Failure to Thrive

  Patients present with low to undetectable concentrations of folate in serum and cerebrospinal fluid, pancytopenia (low number of all blood cells), impaired immune responses that increase susceptibility to infections, and a general failure to thrive (149 [lpi.oregonstate.edu]

• Hypersalivation

  The clinical manifestation is variable but common symptoms are mental retardation, convulsions, disturbance of tone and posture, abnormal movements, hypersalivation, swallowing difficulties, temperature instability, and oculogyric crises. [biopku.org]

• Small Head

  A specific region designated 5p15.3 is associated with a cry, and a nearby region called 5p15.2 is associated with mental retardation, small head. [wikivisually.com]

• Osteoporosis

  Elevated homocysteine levels might also be a risk factor for the development of many other diseases such as heart attack and stroke, osteoporosis, Alzheimer's disease, ulcerative colitis, and Crohn's disease. [jhrr.org]

• Psychomotor Retardation

  Clinical features of four patients with SR deficiency include spasticity, dystonia, microcephaly, hypersalivation, hypotonia of the trunk, hypertonia of the limbs, tremor, oculogyric crises, cortical atrophy, and progressive psychomotor retardation. [biopku.org]

  Psychomotor retardation, spastic paraplegia, cerebellar ataxia and dyskinesia associated with low 5-methyltetrahydrofolate in cerebrospinal fluid: a novel neurometabolic condition responding to folinic acid substitution. [lpi.oregonstate.edu]

• Seizure

  Clinical features include variable neurologic symptoms, ranging from severe developmental delay and generalized seizures in infancy, to childhood absence epilepsy with learning difficulties, to lack of symptoms. [malacards.org]

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

  Update Overview Dihydrofolate reductase deficiency is an autosomal recessive metabolic disorder characterized by the hematologic findings of megaloblastic anemia and variable neurologic symptoms, ranging from severe developmental delay and generalized seizures [diseaseinfosearch.org]

• Convulsions

  The clinical manifestation is variable but common symptoms are mental retardation, convulsions, disturbance of tone and posture, abnormal movements, hypersalivation, swallowing difficulties, temperature instability, and oculogyric crises. [biopku.org]

• Phenylketonuria

  […] hyperphenylalaninemia，新生児一過性高フェニルアラニン血症 70～90% 6. secondary mild phenylketonuria due to total parenteral nutrition，中心静脈栄養長期施行下にまれにみられる二次性フェニルケトン尿症 90～99% 7. secondary mild phenylketonuria due to methotrexate，メトトレキサート使用下にまれにみられる二次性フェニルケトン尿 C. [jc-metabolomics.com]

  These patients can be detected through neonatal screening for phenylketonuria (PKU) due to abnormally high levels of phenylalanine in blood. [biopku.org]

• Macrocytosis

  Diagnosis is based on laboratory findings such as macrocytosis, hyperhomocysteinemia, and normal levels of methylmalonic acid. Therapy consists of oral supplementation. [amboss.com]

  Peripheral-blood analysis revealed macrocytosis without anemia (Table 1). [ncbi.nlm.nih.gov]

• Macrocytic Anemia

  Definition / general Folate deficiency is a low level of folic acid (Vitamin B9) in the body Essential features Characterized by macrocytic anemia Terminology Also called Vitamin B9 deficiency Pathophysiology Images hosted on other servers: Etiology Inadequate [pathologyoutlines.com]

  This condition merits consideration in young patients who present with unexplained macrocytic anemia, moderately severe developmental disorders, and epilepsy. [ncbi.nlm.nih.gov]

Treatment with folinic acid can ameliorate some of the symptoms. [diseaseinfosearch.org]

Before treatment, patient 1 had low RBC folates despite normal plasma folates (Table 1). During 5-FTHF treatment, RBC 5-MTHF remained low in all patients. In addition, nonmethylTHF and FA were present. [ncbi.nlm.nih.gov]

No statistically significant differences were found for folic acid serum concentrations before and three months after treatment. [tandfonline.com]

[…] of thiamine deficiency thiamine 100 mg orally daily Prevention and treatment of thiamine deficiency in severe alcoholics thiamine 100 to 200 mg IV daily for 3 days then thiamine 100 mg orally daily Treatment of Wernicke encephalopathy thiamine 500 mg [lifeinthefastlane.com]

Polymorphisms in DHFR gene are also relevant in the context of sensitivity and resistance to antifolates [ 19, 23, 24 ] and anti-bacterial drugs, as they also affect the prognosis of such patients treated with these drugs. [omicsonline.org]

Physiology Etiology Malnutrition “Tea and toast” diet Alcohol use disorder Malabsorption : : e.g., celiac disease, inflammatory bowel disease Increased requirement : : e.g., pregnancy /lactation, severe hemolytic anemia Drug-related Methotrexate Antiepileptic [amboss.com]

Definition / general Folate deficiency is a low level of folic acid (Vitamin B9) in the body Essential features Characterized by macrocytic anemia Terminology Also called Vitamin B9 deficiency Pathophysiology Images hosted on other servers: Etiology Inadequate [pathologyoutlines.com]

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]

Also, a genetic component in NTD etiology is evidenced by the increased risk in women with a family history of an NTD and also by variations in risk among ethnicities (37). [lpi.oregonstate.edu]

Genatlas disease for DHFR Gene anemia,megaloblastic Relevant External Links for DHFR Genetic Association Database (GAD) DHFR Human Genome Epidemiology (HuGE) Navigator DHFR Atlas of Genetics and Cytogenetics in Oncology and Haematology: DHFR Correlations [genecards.org]

Cleveland (OH) : Modern Curriculum Press ; 1989. 40., ,, ,, , Van Lente F, Chronic Kidney Disease Epidemiology Collaboration. [ajcn.nutrition.org]

Moderate alcohol consumption and breast cancer in women: from epidemiology to mechanisms and interventions. Alcohol Clin Exp Res. 2013;37(1):23-30. (PubMed) 122. Rohan TE, Jain MG, Howe GR, Miller AB. [lpi.oregonstate.edu]

Plowe C, Cortese J, Djimde A, Nwanyanwu O, Watkins W, et al. (1997) Mutations in Plasmodium falciparum Dihydrofolate Reductase and Dihydropteroate Synthase and Epidemiologic Patterns of Pyrimethamine-Sulfadoxine Use and Resistance. [journals.plos.org]

[…] disorder Malabsorption : : e.g., celiac disease, inflammatory bowel disease Increased requirement : : e.g., pregnancy /lactation, severe hemolytic anemia Drug-related Methotrexate Antiepileptic drugs (e.g., phenytoin ) Trimethoprim References: [1] [2] Pathophysiology [amboss.com]

Definition / general Folate deficiency is a low level of folic acid (Vitamin B9) in the body Essential features Characterized by macrocytic anemia Terminology Also called Vitamin B9 deficiency Pathophysiology Images hosted on other servers: Etiology Inadequate [pathologyoutlines.com]

Dihydrofolic acid reductase deficiency prevents this conversion of folic acid to tetrahydrofolic acid; the enzyme activity appears to differ in each patient. [ncbi.nlm.nih.gov]

Leucettine L41 also prevents memory deficits induced by Aβ25-35 in the same model. [medchemexpress.com]

A further study suggests that an extra 200 mg/day or possibly 100 µg/day if taken habitually in fortified food would prevent most if not all of folate-preventable NTDs ( 26 ). [fao.org]

Thiamine before glucose to prevent Wernicke encephalopathy: examining the conventional wisdom. JAMA. 1998 Feb 25;279(8):583-4. [lifeinthefastlane.com]

Rather, studies have shown that MTHF supplementation can increase BH4 levels by preventing its oxidation into BH2 and by supplementing BH4 activity with NOS enzymes further preventing its degradation ( R, R ). [mygenefood.com]