Simple and fast quantification of nitisone (NTBC) using liquid chromatography-tandem mass spectrometry method in plasma of tyrosinemia type 1 patients.

Tyrosinemia type 1, which is caused by a deficiency in fumarylacetoacetate hydrolase, is successfully treatable with nitisone (NTBC), an inhibitor of 4-hydroxyphenyl pyruvate dioxygenase. The recommended average dose of NTBC is 1 mg/kg per day. A rapid liquid chromatography (LC) coupled with negative electrospray ionization tandem mass spectrometry method was developed and validated for the quantification of NTBC in heparinized human plasma.

NTBC treatment in tyrosinaemia type I: long-term outcome in French patients.

We describe a retrospective study of long-term outcome of 46 patients treated and regularly followed in France with 2-(2-nitro-4-trifluoromethylbenzoyl)-1, 3-cyclohexanedione (NTBC) for tyrosinaemia type I. Most had initial good response with normalization of liver function and metabolic parameters. Only one infant had no response to treatment and required liver transplantation.

Glycine and ammonia plasma concentrations during sedation with remifentanil in critically ill patients.

Objectives: To investigate glycine and ammonia plasma concentrations during a 72-h remifentanil infusion and the relationship between glycine concentration and remifentanil infusion rate.

Design And Setting: A prospective open-label observational clinical trial in a trauma and a neurosurgical intensive care unit in a university teaching hospital.

Patients: Nine consecutive patients requiring sedation and ventilatory support for at least 72 h.

Cloning of dimethylglycine dehydrogenase and a new human inborn error of metabolism, dimethylglycine dehydrogenase deficiency.

Dimethylglycine dehydrogenase (DMGDH) (E.C. number 1.

Defect in dimethylglycine dehydrogenase, a new inborn error of metabolism: NMR spectroscopy study.

Background: A38-year-old man presented with a history of fish odor (since age 5) and unusual muscle fatigue with increased serum creatine kinase. Our aim was to identify the metabolic error in this new condition.

Methods: We used 1H NMR spectroscopy to study serum and urine from the patient.