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Biotinidase deficiency is an autosomal recessive metabolic disorder in which biotin is not released from proteins in the diet during digestion or from normal protein turnover in the cell. This situation results in biotin deficiency. Biotin is an important water-soluble nutrient that aids in the metabolism of fats, carbohydrates, and proteins.
Biotin deficiency is a nutritional disorder which can become serious, even fatal, if allowed to progress untreated. It can occur in people of any age, ancestry, or of ...
Biotinidase deficiency is an inherited disorder caused by mutations in the BTD gene. When biotinidase activity is deficient, biotin can be neither recycled within the body nor removed from ingested food. Nor can biotin be recycled from enzymes to which it is bound.
Signs of a biotin deficiency may appear gradually, per the NIH. In the later stages, a biotin deficiency can cause: Hair thinning. Hair loss. A scaly, red rash around orifices. Dry, red eyes ...
Discover what this essential B vitamin can do for your body and whether you need more in your diet.
Biotin deficiency is a relatively uncommon condition, and the vast majority of people can get enough biotin (also known as vitamin B7) just from eating a well-rounded, balanced diet, per Healthline.
Newborn infants are a special case. Plasma vitamin K is low at birth, even if the mother is supplemented during pregnancy, because the vitamin is not transported across the placenta. Vitamin K deficiency bleeding (VKDB) due to physiologically low vitamin K plasma concentrations is a serious risk for premature and term newborn and young infants.
Elevated 3-hydroxyisovaleric acid is a clinical biomarker of biotin deficiency. Without biotin, leucine and isoleucine cannot be metabolized normally and results in elevated synthesis of isovaleric acid and consequently 3-hydroxyisovaleric acid, isovalerylglycine, and other isovaleric acid metabolites as well. Elevated serum 3-hydroxyisovaleric ...