Mayo Test Catalog, (Sorted By Test Name) - Mayo Medical ...

BTDMS
89012
excretion are impaired to varying degrees. Thus, both conjugated and unconjugated bilirubin is retained
and a wide range of abnormal serum concentrations of each form of bilirubin may be observed. Both
conjugated and unconjugated bilirubin are increased in hepatitis and space-occupying lesions of the
liver; and obstructive lesions such as carcinoma of the head of the pancreas, common bile duct, or
ampulla of Vater.
Useful For: Assessing liver function Evaluating a wide range of diseases affecting the production,
uptake, storage, metabolism or excretion of bilirubin Monitoring the efficacy of neonatal phototherapy
Interpretation: The level of bilirubinemia that results in kernicterus in a given infant is unknown,
While central nervous system damage is rare when total serum bilirubin (TSB) is or =24 months: 0.1-1.0 mg/dL
Reference values have not been established for patients that are less than 12 months of age.
Females
1-11 years: 0.1-0.9 mg/dL
> or =12 years: 0.1-1.0 mg/dL
Reference values have not been established for patients that are less than 12 months of age.
Clinical References: 1. Tietz Textbook of Clinical Chemistry. Edited by Burtis and Ashwood.
Philadelphia, WB Saunders Co, 1994 2. Scharschmidt BF, Blanckaert N, Farina FA, et al: Measurement
of serum bilirubin and its mono- and diconjugates: Applications to patients with hepatobiliary disease.
Gut 1982;23:643-649 3. American Academy of Pediatrics Provisional Committee on Quality
Improvement and Subcommittee on Hyperbilirubinemia. Practice parameter: Management of
hyperbilirubinemia in the healthy term newborn. Pediatrics 1994;94:558-565
Biotinidase Deficiency, BTD Full Gene Analysis
Clinical Information: 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 acid synthesis. Depletion of free biotin
reduces carboxylase activity, resulting in secondary carboxylase deficiency. Depending on the amount of
residual biotinidase activity, individuals can have either profound or partial biotinidase deficiency. Age of
onset and clinical phenotype vary among individuals. Profound biotinidase deficiency occurs in
approximately 1 in 137,000 live births and partial biotinidase deficiency occurs in approximately 1 in
110,000 live births, resulting in a combined incidence of about 1 in 61,000. Untreated profound
biotinidase deficiency (