Tratamiento con fomepizol de una intoxicación aguda por metanol

Methanol poisoning may cause metabolic acidosis, visual abnormalities and neurological dysfunction and may also result in severe sequelae or death. The treatment indicated is the administration of antidotes which inhibit the metabolization of the methanol by the alcohol dehydrogenase enzyme (ADH). Traditionally, ethyl alcohol has been used for this purpose, but recently, fomezipole, an inhibitor of alcohol dehydrogenase, has been introduced. We report on the first patient treated with this antidote in Spain. A 59-year-old man with a history of chronic alcoholism was admitted to the Emergency Department due to altered consciousness. Severe metabolic acidosis was detected and the patient admitted having consumed some 50 mL of rubbing alcohol. The serum methanol concentration was 0,24 g/l. Treatment was begun with sodium bicarbonate and fomepizole at a dose of 15 mg/kg, which was well-tolerated with no reappearance of acidosis. Reduced visual acuity and a small haemorrhage in the right optic papilla were observed, both of which were compatible with a toxic neuropathy

Clinical characteristics of adult patients with inborn errors of metabolism in Spain: A review of 500 cases from university hospitals

Patients with inborn errors of metabolism (IEMs) have become an emerging and challenging group in the adult healthcare system whose needs should be known in order to implement appropriate policies and to adapt adult clinical departments. We aimed to analyze the clinical characteristics of adult patients with IEMs who attend the most important Spanish hospitals caring for these conditions. A cohort study was conducted in 500 patients, categorized by metabolic subtype according to pathophysiological classification. The most prevalent group of IEMs was amino acid disorders, with 108 (21.6%) patients diagnosed with phenylketonuria. Lysosomal storage disorders were the second group, in which 32 (6.4%) and 25 (5%) patients had Fabry disease and Gaucher disease respectively. The great clinical heterogeneity, the significant delay in diagnosis after symptom onset, the existence of some degree of physical dependence in a great number of patients, the need for a multidisciplinary and coordinated approach, and the lack of specific drug treatment are common features in this group of conditions