Search Results for "Inherited Biotin Deficiency In Italians"
Original Source: Mutational analysis for biotinidase deficiency of a Greek patients' cohort ascertained through expanded newborn screening.
Late-onset multiple carboxylase deficiency, also known as biotinidase (BTD) deficiency, is an autosomal recessively inherited disorder of biotin metabolism. Its early diagnosis and treatment seems that it can even fully prevent its various clinical manifestations. Mutations in the BTD gene scattered throughout its coding region have been detected in patients ascertained either through newborn screening or clinically. From March 2010 up to June 2011, 18 954 Greek neonates were subjected to biochemical dete...
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Frank vitamin E deficiency is rare and overt deficiency symptoms have not been found in healthy people who obtain little vitamin E from their diets. Premature babies of very low birth weight (<1,...
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Type: Original PaperSodium-dependent multivitamin transporter (SMVT) is a vital transmembrane protein responsible for translocating biotin and other essential cofactors such as pantothenate and lipoat...
Tracking The Genetic Causes Of Inherited Vitamin B12 Deficiency
Vitamin B12 is essential to human health. However, some people have inherited conditions that leave them unable to process vitamin B12. As a result they are prone to serious health problems, including...
Vitamin B12 Deficiency Prevalent Among Refugees
New research from the University of Adelaide has discovered a high prevalence of vitamin B12 deficiency among refugees, prompting calls for refugees to be routinely screened for the problem soon after...
Vitamin B12 deficiency: Tracking the genetic causes
Vitamin B12 is essential to human health. However, some people have inherited conditions that leave them unable to process vitamin B12. As a result they are prone to serious health problems, including...
ACP-501 Shows Promise in Familial LCAT Deficiency
Researchers have, for the first time, successfully replaced the defective enzyme found in this rare inherited disorder, demonstrating safety as well as significant improvements in HDL and markers...
MedImmune acquires CV company AlphaCore
The MedImmune LLC biologics unit of AstraZeneca plc (LSE:AZN; NYSE:AZN) acquired cardiovascular company AlphaCore Pharma (Ann Arbor, Mich.). Details of the deal were not disclosed. AlphaCore is develo...
Buying luxury: Hedonistic or French?
Why do consumers around the world buy luxury goods? In the U.S. it's about hedonism. Meanwhile Germans focused on function, placing emphasis on quality standards over prestige, as did the Italians, Hu...
CCGs could be saddled with inherited debts
A warning has been issued to the new clinical commissioning groups that they may be burdened with inherited debts. The CCGs have been alerted to the fact by its representative group NHS Clinical...
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This study was undertaken to assess the interactive effects of dietary biotin and avidin on growth, feed conversion, survival and deficiency syndrome of tilapia and to determine the influence of dieta...
A novel molecular mechanism to explain biotin-unresponsive holocarboxylase synthetase deficiency.
Biotin (vitamins H and B7) is an important micronutrient as defects in its availability, metabolism or adsorption can cause serious illnesses, especially in the young. A key molecule in the biotin cyc...
An inherited antithrombin deficiency is an autosomal dominant thrombotic disorder. We identified two pedigrees of inherited type I antithrombin deficiency and two responsible mutations in each. A nove...
Hemophagocytic syndrome in a 4-month-old infant with biotinidase deficiency.
Hemophagocytic syndromes such as hemophagocytic lymphohistiocytosis (HLH) are life-threatening hyperinflammatory conditions caused by inherited or acquired immune disorders. Awareness of the clinical...
Abnormally increased urinary excretion of 3-hydroxyisovaleryl carnitine (3HIA-carnitine) results from impairment in leucine catabolism caused by reduced activity of the biotin-dependent enzyme 3-methy...
