An analysis of biotinidase deficiency

First-degree blood relative ie, parent, full-sibling, child with a history of high-risk thrombophilia eg, antithrombin deficiency, double heterozygosity or homozygosity for FVL or prothrombin GA ; or First-degree blood relative ie, parent, full-sibling, child with venous thromboembolism VTE before age 50 years; or First unprovoked eg, from an unknown cause VTE at any age especially age less than 50 years ; or Individual with a first VTE AND a first-degree blood family member ie, parent, full-sibling, child with a VTE occurring before age 50 years; or Individual with history of recurrent VTE; or Venous thrombosis at unusual sites eg, cerebral, mesenteric, portal and hepatic veins ; or VTE associated with the use of oral contraceptives or hormone replacement therapy HRT ; or VTE during pregnancy or the puerperium. Aetna considers Factor V Leiden genetic testing experimental and investigational for all other indications because its effectiveness for indications other than the ones listed above has not been established. Aetna considers Factor V HR2 allele DNA mutation analysis experimental and investigational because its effectiveness has not been established.

An analysis of biotinidase deficiency

References What is it? Biotin is a vitamin.

Background

It is found in small amounts in many foods such as eggs, milk, or bananas. Biotin is commonly used for hair loss, brittle nails, nerve damage, and many other conditions. How effective is it? Natural Medicines Comprehensive Database rates effectiveness based on scientific evidence according to the following scale: Taking biotin can help treat low blood levels of biotin.

An analysis of biotinidase deficiency

It can also prevent blood levels of biotin from becoming too low. Low blood levels of biotin can cause thinning of the hair and rash around the eyes, nose, and mouth. Other symptoms include depression, lack of interest, hallucinations, and tingling in the arms and legs. Low biotin levels can occur in people who are pregnant, who have had long-term tube feeding, who are malnourished, who have undergone rapid weight loss, or who have a specific inherited condition.

Cigarette smoking might also cause low blood levels of biotin. Skin rash in infants seborrheic dermatitis. Taking biotin does not seem to help improve rash in infants. Insufficient evidence to rate effectiveness for Taking biotin and zinc by mouth in addition to applying a steroid cream to the skin might help reduce hair loss.

An inherited disorder called biotin-thiamine-responsive basal ganglia disease. People with this condition experience episodes of altered mental state and muscle problems. Early research shows that taking biotin plus thiamine does not prevent these episodes better than taking thiamine alone.

But the combination might shorten how long the episodes last when they do occur.

Customer Care

Brittle fingernails and toenails. Taking biotin by mouth for up to a year might increase the thickness of fingernails and toenails in people with brittle nails. Some early research shows that taking biotin along with chromium might lower blood sugar in people with diabetes.

An analysis of biotinidase deficiency

However, taking biotin alone doesn't seem to improve blood sugar levels in people with diabetes. Early research shows that taking biotin by mouth or receiving it as a shot might reduce nerve pain in the legs of people with diabetes.BTDZ: Biotinidase deficiency is an inherited metabolic disease caused by reduced levels of biotinidase, an enzyme that recycles biotin by releasing it from its metabolic product, biocytin, or exogenous dietary proteins.

Biotin is a vitamin that serves as a coenzyme for 4 carboxylases that are essential for amino acid catabolism, gluconeogenesis, and fatty . Footnotes * Medically necessary if results of the adrenocortical profile following cosyntropin stimulation test are equivocal or for purposes of genetic counseling..

Footnotes ** Electrophoresis is the appropriate initial laboratory test for individuals judged to be at-risk for a hemoglobin disorder.. In the absence of specific information regarding advances in the knowledge of mutation.

Biotinidase deficiency is an inherited disorder in which the body is unable to recycle the vitamin biotin. If this condition is not recognized and treated, its signs and symptoms typically appear within the first few months of life, although it can also become apparent later in childhood.

Carnitine palmitoyltransferase II deficiency - Wikipedia

Profound. Biotinidase deficiency Methodology Help The assay's major method category (biochemical, cytogenetic or molecular genetics); method category (i.e.

enzyme assay, chromosome breakage studies, targeted mutation analysis); methodology (i.e. the name of the method used) and instruments used when performing this test.

Test Available Sequencing Del/Dup Other; α-Actin (Skeletal Muscle Form)-Related Myopathy via ACTA1 Gene Sequencing with CNV Detection: $ β-Ketothiolase Deficiency via ACAT1 Gene Sequencing with CNV Detection: $ β-Mannosidase Deficiency via MANBA Gene Sequencing with CNV Detection: $ Print Entire Test Directory Disclaimer: Clicking the button above will compile the latest version of our test directory into a roughly page long PDF document.

It may take up to 2 minutes for the PDF to appear in your browser, so please be patient as the document is created.

Biotinidase Deficiency - GeneReviews® - NCBI Bookshelf