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We present the clinical and laboratory effects of dichloroacetate (DCA) in three children with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS) who had not responded to other medications. Administration of DCA lowered the elevated levels of lactate and pyruvate in the serum and CSF. DCA ameliorated abdominal pain, headache, and strokelike episodes, and improved cognitive function and fatigability in the three patients during the study period. Some transient liver dysfunction, hypocalcemia, and peripheral neuropathy were observed. The use of DCA in MELAS merits further study.

Prenatal screening of oculo-cerebro-renal syndrome of Lowe (OCRL; McKusick 309000) was performed using cultured amniocytes. Following identification of defective mRNA expression in the OCRL1 gene of the proband's fibroblasts, the mRNA size and quantity of the cultured amniocytes were compared. Based on this analysis, the fetus was diagnosed as being normal and was subsequently delivered as a healthy boy. This is the first reported successful prenatal screening of OCRL using a comparison with defective mRNA of OCRL1 from affected subjects. Copyright © 1999 John Wiley & Sons, Ltd.

Prenatal screening of oculo‐cerebro‐renal syndrome of Lowe (OCRL; McKusick 309000) was performed using cultured amniocytes. Following identification of defective mRNA expression in the OCRL1 gene of the proband's fibroblasts, the mRNA size and quantity of the cultured amniocytes were compared. Based on this analysis, the fetus was diagnosed as being normal and was subsequently delivered as a healthy boy. This is the first reported successful prenatal screening of OCRL using a comparison with defective mRNA of OCRL1 from affected subjects. Copyright © 1999 John Wiley & Sons, Ltd.