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Background/Aims Range and severity of symptoms hugely variable in aminoacidopathies, mainly diagnosed during acute episodes. Tandem Mass spectrometry (Ms/Ms) used in our unit since 2010 for diagnosing asymptomatic infants (very important for prognosis). Methods Retrospective, descriptive study in which field data were collected from clinical histories of patients diagnosed of aminoacidopathies (excluding phenylcetonuria) since 2000 till 2012. Results 30 children detected. 22/30 male; 24/30 caucasians. 10/30 diagnosed by newborn screening, all of them asymptomatic: 1 methylmalonic acidemia (MMA), 3 glutaric aciduria type 1, 2 homocystinuria, 2 methylcrotonylglycinuria, 1 hipermetioninemia and 1 maple syrup urine disease. 20/30 diagnosed because of clinical symptoms, 2/20 since MS/MS newborn screening was performed. Mean age of clinical debut in intoxication type aminoacidopathies was 64.5 days (median 8 days). Most frequent symptoms were clouding of consciousness (9/20), convulsions (2/20) and apnoea (2/20). Laboratory results showed metabolic acidosis (6/20), hyperammonemia (8/20), coagulation defects (4/20) and hipoglycemia. Main complications were: shock (9/20), multiple organ failure (5/20), coagulopathy (4/20), brain injury (1/20), liver failure (1/20) and seizures (2/20). The final diagnosis was: 5 OTC-defficiency, 2 citrullinemia, 3 methylmalonic acidemia, 1 3-OH-metilglutaric aciduria, 1 glutaric aciduria type 1, 1 metilglutaconic acidemia, 1 trimethylaminuria, 1 propionic acidemia, 2 tyrosinemia and 3 homocystinuria. Ventilatory support needed in 13/20, vasoactive agents 11/20, peritoneal dialysis 8/20, continuous veno-venous haemofiltration 4/20. 8 patients died; among survivors, 2/12 madurative failure, 3/12 serious neurological sequelae, 1/12 liver failure, needing transplantation. Conclusions Aminoacidopathies diagnosed by Ms/Ms start early with treatment. Wide range of presentation symptoms and findings.

Introduction Referring to the use of statins for hyperlipemia in children, it is not yet clearly defined who must be treated (recent recommendations focused on older than 8 years) and also the frequency of short and long-term toxicity. Methods Retrospective, descriptive study of patients, 10 year-old or younger, under statin treatment, followed in our Unit. Epidemiology, treatment and side-effects data were analized. Results Twelve children met inclusion criteria; 7/12 female and 11/12 caucasian. Main diagnosis was familiar hypercholesterolemia (10/12); 1/12 hypertriglyceridemia and 1/12 nefrotic syndrome. Positive family history of cardiovascular events: 5/12 (no death among first degree relatives). Mean age at diagnosis was 5.3 years. All of them were asymptomatic. 8/12 had been treated previously (7/12 resins, 1/12 cholesterol absorption inhibitor). Statin treatment starting age was 8.6 years, 4/12 younger than 8 year-old (minimum age: 5.2 years). Atorvastatin used in 10/12, lovastatin 1/12, simvastatin 1/12; initial dose was always 10 mg/day. The average levels before treatment were: LDL 235 mg/dL, total cholesterol 324.7 mg/dL. In one 10 year-old patient (40 mg/day lovastatin) muscular pain was reported with a CPK increase; side-effects stopped once the statin dose was reduced to 20mg/day. Besides, no adverse effect was reported. The highest dose achieved was 40 mg/day. Patients follow-up varies from 9 months to 4 years. Conclusions It remains unclear whether statins could be started before 8 year-old. From our experience, no adverse effects were found in that group. Dose had to be increased to 20–40 mg/day in order to achieve objectives.