Publications by authors named "M B Coulter-Mackie"
Primary hyperoxaluria type 1 (PH1) is a rare genetic kidney disease caused by a deficiency of alanine:glyoxylate aminotransferase (AGT). Genetic heterogeneity of the AGT gene cannot fully account for heterogeneity in the clinical phenotype. This study investigates a possible contribution to the clinical phenotype from SNPs in RET or PAX2 genes associated with reduced nephron number.
View Article and Find Full Text PDFPyridoxine-dependent epilepsy (PDE) is an autosomal recessive disorder characterized by early onset seizures responsive to pyridoxine and caused by a defect in the α-aminoadipic semialdehyde dehydrogenase (antiquitin) gene (ALDH7A1). We selected four PDE-associated missense ALDH7A1 mutations, p.V367F, p.
View Article and Find Full Text PDFArticle Synopsis
- * Researchers found different mutations in the CA5A gene that affect the enzyme carbonic anhydrase VA (CA-VA), including a harmful mutation that reduced enzyme activity, leading to metabolic issues.
- * Administering carglumic acid successfully treated the high ammonia levels in three of the children, suggesting that CA-VA deficiency should be included in diagnoses for hyperammonemia in infants and young children.
Pyridoxine dependent epilepsy is an autosomal recessive disorder characterized by early onset seizures responsive to pyridoxine and caused by a defect in the α-aminoadipic semialdehyde dehydrogenase (antiquitin) gene (ALDH7A1). In order to characterize the effects of a series of twelve disease-associated ALDH7A1 missense mutations on antiquitin activity, we generated the mutations in a recombinant human antiquitin cDNA and expressed them in Escherichia coli. We developed an automated spectrophotometric assay of antiquitin enzymatic activity using the natural substrate α-aminoadipic semialdehyde.
View Article and Find Full Text PDFBackground: Pyridoxine dependent epilepsy (PDE) is characterized by neonatal epileptic encepahalopathy responsive to pharmacological doses of vitamin B6. Recently an autosomal recessive deficiency in Antiquitin (ALDH7A1), a gene involved in the catabolism of lysine has been identified as the underlying cause.
Case Report: In 21 and 23 year-old sisters, who had presented with neonatal / early infantile onset seizures, PDE was confirmed by elevated urinary alpha aminoadipic- 6- semialdehyde (α-AASA) excretion and compound heterozygosity for two known ALDH7A1 missense mutations.