Biotinidase deficiency (BTD) is a rare inherited metabolic disorder with predominant dermatogical and neurological manifestations, which if untreated leads to severe sequelae. Early diagnosis prompt treatment biotin prevents further progression of symptoms resolution cutaneous features. We report an interesting case four half year male child presenting seizures, developmental delay non resolvin...

according to the definition by the national institutes of health of usa, a biological marker (biomarker) is a characteristic that is objectively measured and evaluated, as an indicator of normal biological processes, pathogenic processes or pharmacological responses, to a therapeutic agent. several studies have reported that a decreased regulating gene expression of biotinidase (btd) is associa...

OBJECTIVES This study examined for the first time to our knowledge the national data available from newborn screening programs in the United States and determined the salient characteristics of various screening tests for 3 hereditary metabolic disorders and 2 congenital endocrinopathies with emphasis on positive predictive values (PPVs) to delineate the magnitude of false-positive results. M...

INTRODUCTION Biotinidase deficiency (BTD) is an inborn error of biotin metabolism inherited as an autosomal recessive trait. Due to the, biotinidase deficiency, biotin is not recycled. Individuals with BTD usually exhibit neurological and cutaneous abnormalities unless treated with biotin. Supplementation with biotin may either ameliorate or if early introduced even prevent symptoms when introd...

We report the first microdeletion (26 kb) of the biotinidase gene (BTD) that involves three of the four exons of the gene. This deletion further exemplifies the importance of performing microarray analysis or other methodologies for a deletion of the BTD gene when the enzymatic activity indicates lower activity than can be attributed to the mutations identified by DNA sequencing.