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.