Cultured amniocyte

Prenatal and postnatal diagnoses can be made by enzyme assay of cultured amniocytes, fibroblasts or white blood cells. Treatment remains symptomatic. Sodium bicarbonate is necessary to correct the acidosis. Aspartic acid supplementation will improve the systemic condition but has no effect on the neurological disturbances. Biotin supplementation is of no value. 

Brown BI, Brown DH (1989) Branching enzyme activity of cultured amniocytes and chorionic villi prenatal testing for type IV glycogen storage disease. Am J Hum Genet 44 378-381... 

Holocarboxylase synthetase deficiency can be diagnosed prenatally by assessing the response of carboxylase activity in cultured amniocytes (obtained by amniocentesis) to the addition of biotin, or by the detection of methylcitric and hydroxyisovaleric acids in the amniotic fluid. Prenatal therapy, by giving the mother 10 mg of biotin per day, results in sufficiently elevated fetal blood concentrations of biotin to prevent the development of organic acidemia at birth. 

Antenatal diagnosis for fetuses at risk for the urea cycle enzyme disorders can be made by appropriate enzyme assays and DNA analysis in the cultured amniocytes. 

For prenatal diagnosis, amniotic fluid can be used to identify acylcarni-tines characteristic of certain branched-chain amino acid disorders. Cultured amniocytes or chorionic villous cells can be used with in-vitro substrate loading for diagnosis of fatty acid and branched-chain amino acid disorders as described earlier for fibroblasts [13]. 

Sulfite oxidase deficiency Chorionic villi, amniotic fluid, cultured amniocytes I> II... 

MTHFR deficiency Chorionic villi, cultured amniocytes I, II... 

Glycerol kinase deficiency (17.hi, 17.1.2, and 17.1.3) Leukocytes, lymphoblastoid cells, fibroblasts, liver, kidney, small intestine, adrenal, cultured amniocytes Xp21 307030... 

Cell-free amniotic fluid and cultured amniocytes Iduronate 2-sulfatase... 

Cultured amniocytes N Acetylgalac tosam ine 6 - sulfatase (galactose 6-sulfatase)... 

Wilson disease Chorionic villi Cultured amniocytes DNA l-II... 

Sakuraba, H., Itoh, K., Kotani, M., Tai, T., Yamada, H., Kurosawa, K., Kuroki, Y., Suzuki, H., Utsunomiya, T., Inoue, H., and Suzuki, Y., 1993, Prenatal diagnosis of GM2-gangliosidosis Immunofluorescence analysis of GM2 in cultured amniocytes by confocal laser scanning microscopy, Brain Dev. 15 278-282. 

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