Bordetella pertussis stain (Gram-negative, coccobacilli, diplococci arrangement), growth on Bordet-Gengou agar or BCYE plate with added cephalosporin to select for the organism, which shows mercury drop-like colonies. "B. pertussis" can also be detected by PCR, which is more sensitive than culture. The primers used for PCR usually target the transposable elements IS481 and IS1001. Several diagnostic tests are available, especially ELISA kits. These are designed to detect FHA and/or PT antibodies of IgG, IgA, or IgM. Some kits use a combination of antigens which lead to a higher sensitivity, but might also make the interpretation of the results harder, since one cannot
Schindler disease Schindler disease Schindler disease, also known as Kanzaki disease and alpha-N-acetylgalactosaminidase deficiency is a rare disease found in humans. This lysosomal storage disorder is caused by a deficiency in the enzyme alpha-NAGA (alpha-N-acetylgalactosaminidase), attributable to mutations in the NAGA gene on chromosome 22, which leads to excessive lysosomal accumulation of glycoproteins. A deficiency of the alpha-NAGA enzyme leads to an accumulation of glycosphingolipids throughout the body. This accumulation of sugars gives rise to the clinical features associated with this disorder. Schindler disease is an autosomal recessive disorder, meaning that one must inherit an abnormal allele from both parents in order