Atypical serum cholinesterase in a family with congenital distichiasis.

Atypical cholinesterase

Comparison of Atypical and Usual Human Serum Cholinesterase

Atypical and usual human serum cholinesterases were purified and studied with the fluorescent probe, N-methyl(7-dimethylcarbamoxy)quinolinium iodide. Four active sites per tetramer were found in each enzyme. The turnover numbers of usual and atypical cholinesterases were the same: 15,000 pmol of benzoylcholine hydrol~zedlminl~mol of active site; 48,000 min-’ for o-nitrophenylbutyrate; and 0.002...

Amniotic Membrane Transplantation for Congenital Distichiasis

Purpose: To evaluate the use of amniotic membrane transplantation (AMT) for management of congenital distichiasis. Methods: In this interventional case series, 16 eyelids of 5 patients with congenital distichiasis underwent posterior lamella resection and AMT. Results: All patients were male subjects with mean age of 13.6±15.2 (range 2-42) years. Mean follow up was 17±7.5 (range 6-29) months. D...

A Novel Missense Mutation in CLCN1 Gene in a Family with Autosomal Recessive Congenital Myotonia

Congenital recessive myotonia is a rare genetic disorder caused by mutations in CLCN1, which codes for the main skeletal muscle chloride channel ClC-1. More than 120 mutations have been found in this gene. The main feature of this disorder is muscle membrane hyperexcitability. Here, we report a 59-year male patient suffering from congenital myotonia. He had transient generalized myotonia, which...

Prediction of drug sensitivity in individuals with atypical serum cholinesterase based on in vitro biochemical studies.

V,,,, and K,,, values with twenty-five “atypical” and thirty-seven “usual” cholinesterase human sera were determined for the cholinesterase substrates procaine, tetracaine, benzoylcholine, o-nitrophenylbutyrate, cu-naphthylacetate and aspirin. Aspirin was demonstrated to be a substrate for serum cholinesterase. For each of these substrates the ratio of V,,substrate to V,,,, benzoylcholine was f...