• After four days of oral biotin, 10 mg/per day, the metabolites in her urine were significantly reduced, suggesting a biotin-responsive multiple carboxylase deficiency. (elsevierpure.com)
  • Roth KS, Yang W, Foremann JW, Rothman R, Segal S. Holocarboxylase synthetase deficiency: a biotin-responsive organic acidemia. (medscape.com)
  • Mutant holocarboxylase synthetase: evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency. (medscape.com)
  • Deficient biotinidase activity in late-onset multiple carboxylase deficiency. (medscape.com)
  • Elevated levels of this compound are found in several inherited disorders such as Dihydrolipoamide dehydrogenase Deficiency, 3-Methylcrotonyl-CoA carboxylase 1 deficiency, 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency (3-hydroxy-3-methylglutaryl -CoA lyase Deficiency, Biotinidase deficiency multiple carboxylase deficiency late-onset , Late onset multiple carboxylase deficiency, HolMcarboxylase synthetase deficiency, 3-Methylcrotonyl-CoA carboxylase 2 deficiency. (loinc.org)
  • In acute deficiency, pyruvate accumulates and is metabolized to lactate, and chronic deficiency may cause polyneuropathy and Wernicke encephalopathy. (psoriasisdietplan.com)
  • Disorders in pyruvate metabolism appear to lead to deficiencies in neurotransmitter synthesis and, consequently, to nervous system disorders. (nih.gov)
  • Magnesium is required for three critical enzymatic reactions in glucose metabolism: pyruvate carboxylase, phosphoenol-pyruvate carboxykinase and fructose 1,6 biphosphatase. (metabolichealing.com)
  • disorders caused by deficiency of one or more subunits of a dehydrogenase active in the 2nd step of branched-chain amino acid catabolism. (msdmanuals.com)
  • One of the genetic variations affecting the blood pH levels is biotinidase deficiency which belongs to the group of multiple carboxylase deficiency disorders. (psoriasisdietplan.com)
  • In 2015 new evidence was assessed and it was agreed by clinical experts and the NSU that a group of rare disorders (carboxylase deficiencies) should no longer be screened for. (nsu.govt.nz)
  • High-dose supplementation (doses greater than 1 mg/d) plays a role in therapy for several diseases, including biotinidase deficiency, mitochondrial metabolic disorders, and multiple sclerosis. (aacc.org)
  • Individuals who have strict diets or have eating disorders, such as anorexia or bulimia, may suffer from secondary vitamin K deficiency. (naturalremedies.org)
  • 4-Hydroxybutyric acid and the clinical phenotype of succinic semialdehyde dehydrogenase deficiency, an inborn of GABA metabolism. (forextrading-madeeasy.com)
  • The deficiency can be in biotinidase or holocarboxylase synthetase. (wikipedia.org)
  • thus, the infant with holocarboxylase synthetase (HCS) deficiency in utero grows uneventfully. (medscape.com)
  • The major clinical findings of holocarboxylase synthetase deficiency include severe ketoacidosis, exfoliative dermatitis, and hypoglycemia . (medscape.com)
  • Tammachote R, Janklat S, Tongkobpetch S, Suphapeetiporn K, Shotelersuk V. Holocarboxylase synthetase deficiency: novel clinical and molecular findings. (medscape.com)
  • Reduced half-life of holocarboxylase synthetase from patients with severe multiple carboxylase deficiency. (medscape.com)
  • Holocarboxylase synthetase deficiency pre and post newborn screening. (medscape.com)
  • A novel molecular mechanism to explain biotin-unresponsive holocarboxylase synthetase deficiency. (medscape.com)
  • Clinical Presentation and Positive Outcome of Two Siblings with Holocarboxylase Synthetase Deficiency Caused by a Homozygous L216R Mutation. (medscape.com)
  • Bandaralage SP, Farnaghi S, Dulhunty JM, Kothari A. Antenatal and postnatal radiologic diagnosis of holocarboxylase synthetase deficiency: a systematic review. (medscape.com)
  • Multiple carboxylase deficiency (MCD) is an autosomal recessive metabolic disorder characterized primarily by cutaneous and neurologic abnormalities. (beds.ac.uk)
  • Biotinidase deficiency is an autosomal recessive metabolic disorder of biotin recycling. (nwlpathology.nhs.uk)
  • Multiple carboxylase defects and complementation studies with propionicacidemia in cultured fibroblasts. (medscape.com)
  • Subsequent work led to further delineation of another disorder, initially called multiple carboxylase deficiency, which includes deficiency of propionyl CoA carboxylase activity in addition to defects in other carboxylases. (medscape.com)
  • Sweetman (1981) recognized that multiple carboxylase deficiency could be classified into early (see 253270) and late forms. (beds.ac.uk)
  • The scientific paper from 1981 describes the multiple carboxylase deficiency which presented in early childhood as alopecia, skin rashes, dermatitis, hypotonia (muscle weakness), ataxia and motor retardation, frequent episodes of ketoacidosis with hyperlactatemia . (psoriasisdietplan.com)
  • MCAD deficiency, it is important that urine is collected at the time of hypoglycaemic stress. (mangen.co.uk)
  • Multiple carboxylase deficiency is a form of metabolic disorder involving failures of carboxylation enzymes. (wikipedia.org)
  • In 1961, Childs et al published the earliest clinical report of a patient who was ultimately found to be affected by a deficiency of propionyl coenzyme A (CoA) carboxylase (ie, propionic acidemia). (medscape.com)
  • It is very rare to see someone deficient in Biotin although half of pregnant women may develop a very mild deficiency. (racerephedra.com)
  • It also indicates that more knowledge about how multiple genetic hits affect neuronal function will be necessary to fully understand the genetic architecture of autism. (nature.com)
  • Real time PCR assays to detect common mutations in the biotinidase gene and application of mutational analysis to newborn screening for biotinidase deficiency. (medlineplus.gov)
  • Estimates on the incidence of GAMT deficiency vary widely, with recent numbers from the Utah and New York newborn screening programs estimating 1:405,655. (medicalhomeportal.org)
  • To confirm the diagnosis of GAMT deficiency, work with Newborn Screening Services ( see RI providers [2] ) . (medicalhomeportal.org)
  • Enzymatic testing for the diagnosis of biotinidase deficiency, usually in follow-up to an abnormal newborn screen. (mayocliniclabs.com)
  • A vitamin K deficiency in healthy adults is not common, however, there is an increased risk of a deficiency in newborn infants. (naturalremedies.org)
  • Individuals who suffer from cystic fibrosis, inflammatory bowel diseases or have had recent abdominal surgeries may be at a higher risk for deficiency. (naturalremedies.org)
  • Biotinidase deficiency (Multiple carboxylase deficiency) is an autosomal recessive disease caused by a mutation in the BTD gene which codes for biotinidase. (smpdb.ca)
  • Adults who take anticoagulant drugs or individuals who have liver damage or disease are at a higher risk of vitamin K deficiency. (naturalremedies.org)
  • Biotin, is an essential coenzyme involved in carbon dioxide transfer in carboxylase reactions. (aacc.org)
  • Inherited abnormalities of fructose metabolism, which include three known autosomal recessive types: hepatic fructokinase deficiency (essential fructosuria), hereditary fructose intolerance, and hereditary fructose-1,6-diphosphatase deficiency. (sdsu.edu)
  • A condition caused by high levels of ammonia , which is due to inborn errors of metabolism (including urea cycle disorder or multiple carboxylase deficiency ), a diet with excessive levels of protein , deficiencies of specific nutrients such as arginine or biotin , or organ failure. (wikipedia.org)
  • Guanidinoacetate methyltransferase (GAMT) deficiency is an inborn error of creatine synthesis resulting in creatine deficiency and an accumulation of the toxic metabolite (GAA) guanidinoacetate in tissues and body fluids, including the brain. (medicalhomeportal.org)
  • Free biotin is needed by enzymes called biotin-dependent carboxylases to break down fats, proteins, and carbohydrates. (medlineplus.gov)
  • Because several of these enzymes are impaired in biotinidase deficiency, the condition is considered a form of multiple carboxylase deficiency. (medlineplus.gov)
  • Biotin is also important for the conversion of food (1) in our bodies into metabolic energy and the function of carboxylases enzymes that contain biotin. (racerephedra.com)
  • Severe combined immune deficiency (SCID). (nsu.govt.nz)
  • Treatment of diseases caused by biotin deficiency: diseases of the skin, nails, hair. (kusum.ua)
  • Mannosidase Deficiency Diseases" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (ouhsc.edu)
  • This graph shows the total number of publications written about "Mannosidase Deficiency Diseases" by people in this website by year, and whether "Mannosidase Deficiency Diseases" was a major or minor topic of these publications. (ouhsc.edu)
  • Below are the most recent publications written about "Mannosidase Deficiency Diseases" by people in Profiles. (ouhsc.edu)
  • Magnesium deficiency has been cited in numerous diseases, as either being a causative factor, or as expediting various diseases processes. (metabolichealing.com)
  • Biotinidase deficiency is an inherited disorder in which the body is unable to recycle the vitamin biotin. (medlineplus.gov)
  • Patient consumed the alcohol regularly (which is a risk factor of thiamine deficiency) and shortly before the hospitalization lost about 5 kg. (psoriasisdietplan.com)
  • Critically ill patients are prone to thiamine deficiency because of preexistent malnutrition, increased consumption in high-carbohydrate nutrition, and accelerated clearance in renal replacement. (psoriasisdietplan.com)
  • Thiamine deficiency may become clinically evident in any type of malnutrition that outlasts thiamine body stores (2 to 3 weeks), including alcoholism, bariatric surgery, or hyperemesis gravidarum, and results in high morbidity and mortality if untreated. (psoriasisdietplan.com)
  • Arising from thiamine (B 1 ) deficiency , usually in the setting of alcoholism . (wikipedia.org)