• 2-Hydroxybutyric acid generally appears at high concentrations in situations related to deficient energy metabolism (e.g. birth asphyxia) and also in inherited metabolic diseases affecting the central nervous system during neonatal development, such as "cerebral" lactic acidosis, glutaric aciduria type II, dihydrolipoyl dehydrogenase (E3) deficiency, and propionic acidemia. (pathbank.org)
  • 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)
  • VLCAD (very-long-chain acyl-CoA dehydrogenase deficiency). (nsu.govt.nz)
  • Symptoms result from the patient's inability to reutilize biotin, a necessary nutrient. (beds.ac.uk)
  • Biotin is also a crucial nutrient during pregnancy, as it's essential for embryonic growth. (fluidrevival.com)
  • High levels of 1-MHis tend to inhibit the enzyme carnosinase and increase anserine levels. (pathbank.org)
  • Amino acid breakdown: Biotin-containing enzymes are involved in the metabolism of several essential amino acids, including leucine. (fluidrevival.com)
  • Biotin deficiency can be caused by inadequate dietary intake (rare) or inherited one or more inborn genetic disorders that affect biotin metabolism. (fluidrevival.com)
  • Sweetman (1981) proposed a defect in holocarboxylase synthetase and intestinal biotin absorption, respectively. (beds.ac.uk)
  • This chapter focusses mainly on inorganic plant nutrition, wherein you will study the methods to identify elements essential to growth and development of plants and the criteria for establishing the essentiality.You will also study the role of the essential elements, their major deficiency symptoms and the mechanism of absorption of these essential elements.The chapter also introduces you briefly to the significance and the mechanism of biological nitrogen fixation. (ekvij.com)
  • eg PKU - without this enzyme an amino acid (called phenylalanine) rises to harmful levels and can lead to developmental delay. (nsu.govt.nz)
  • Gluconeogenesis: This is the synthesis of glucose from sources other than carbs, such as amino acids and biotin-containing enzymes, which help initiate this process. (fluidrevival.com)
  • By this method, essential elements were identified and their deficiency symptoms discovered. (ekvij.com)
  • Subclinical deficiency can cause mild symptoms, such as hair thinning, brittle fingernails, or skin rash, typically on the face. (fluidrevival.com)
  • Fatty acid synthesis: Biotin assists enzymes that activate important reactions for the production of fatty acids. (fluidrevival.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)
  • Without these enzymes energy cannot be converted from fats and can lead to coma and death. (nsu.govt.nz)
  • Biotin helps the body convert food into energy - it supports several enzymes involved in the breakdown of carbs, fats, and proteins. (fluidrevival.com)
  • Vitamin E deficiency can lead to 1-methylhistidinuria from increased oxidative effects in skeletal muscle. (pathbank.org)
  • Biotin, also called vitamin B7, is one of the B vitamins. (fluidrevival.com)
  • Also known as vitamin H, biotin is one of the B complex vitamins that help the body convert food into energy. (fluidrevival.com)
  • Biotin deficiency can lead to hair loss, which indicates that the vitamin is involved in keeping the hair healthy. (fluidrevival.com)
  • Reduced serum carnosinase activity is also found in patients with Parkinson's disease and multiple sclerosis and patients following a cerebrovascular accident. (pathbank.org)
  • Multiple sclerosis (MS) is an autoimmune disease. (fluidrevival.com)
  • A defective enzyme prevents normal use of milk sugar leading to jaundice, cataracts and life-threatening illness. (nsu.govt.nz)
  • People who are lactose intolerant do not have enough lactase, an enzyme that breaks down milk sugar (lactose) into smaller molecules that the body can break down further and absorb through the intestine. (epiphanyasd.com)
  • Severe combined immune deficiency (SCID). (nsu.govt.nz)
  • The name biotin derives from the Greek word "bios" (to live) and the suffix "-in" (a general chemical suffix used in organic chemistry. (fluidrevival.com)
  • For people with this deficiency, taking supplements that contain biotin could improve the strength of their nails. (fluidrevival.com)
  • Some people also believe that biotin may help improve psoriasis. (fluidrevival.com)
  • Studies have shown that people with MS respond positively to daily biotin doses of up to 300 milligrams (mg). (fluidrevival.com)
  • The early form showed higher urinary excretion of 3-hydroxyisovaleric acid and 3-hydroxypropionic acid than the late form and was associated with normal plasma biotin concentrations. (beds.ac.uk)
  • Some factors can interfere with how DAO and HMNT work, or how much of these enzymes are present in the gut. (epiphanyasd.com)
  • Because food-processing techniques like cooking can render biotin ineffective, raw, or less-processed versions of these foods contain more active biotin. (fluidrevival.com)
  • This protective covering is called myelin, and biotin may play an important role in producing it. (fluidrevival.com)