PA is an inborn error of metabolism due to propionyl-coenzyme A carboxylase deficiency, often characterized by episodic metabolic decompensation at risk for neurologic sequelae. We report the case of a 13 years old girl, diagnosed after a severe metabolic decompensation episode at 7 days of age. From diagnosis, the patient follows a strict dietary and pharmacological treatment with optimal compliance, showing an isolated decompensation episode during illness at 1 year of age. At 12 years old, in wellness, she started to present progressive (about 2 weeks) generalized asthenia with marked hyposthenia at legs and intermittent eyelid ptosis. For the worsening progress of symptoms (psychomotor agitation and an episode of vomiting) she was admitted to hospital: Astrup, ammonia, lactic acid, complete blood count, hepatic and renal function tests and urine parameters were completely normal. After 6 hours she started to present excessive sweating, superficial breath and 2 vomiting, leading to severe metabolic acidosis with lactic and ketotic component, marked hyperglycaemia and ketonuria, requiring admission to intensive care unit. Our case report underline the importance to consider any neurological and neuropsychological symptoms and signs, even if not yet associated to metabolic blood and urine alterations, as prelude of a possible acute metabolic decompensation.
Could neurological symptomatology precede an acute metabolic crisis in patient affected by propionic aciduria (PA)? A particular case report / S. Paci, S. Vincenti, R. Selmi, E. Salvatici, E. Riva. - In: JOURNAL OF INHERITED METABOLIC DISEASE. - ISSN 0141-8955. - 35:Suppl. 1(2012 Sep), p. S57. ((Intervento presentato al convegno Annual Symposium of the Society for the Study of Inborn Errors of Metabolism tenutosi a Birmingham nel 2012.
|Titolo:||Could neurological symptomatology precede an acute metabolic crisis in patient affected by propionic aciduria (PA)? A particular case report|
PACI, SABRINA (Primo)
VINCENTI, STEFANIA (Secondo)
SALVATICI, ELISABETTA (Penultimo)
RIVA, ENRICA LICIA (Ultimo)
|Settore Scientifico Disciplinare:||Settore MED/38 - Pediatria Generale e Specialistica|
|Data di pubblicazione:||set-2012|
|Enti collegati al convegno:||Society for the Study of Inborn Errors of Metabolism|
|Appare nelle tipologie:||01 - Articolo su periodico|