Atypical presentations of propionic acidemia英文文献资料.docVIP

Vol.4, No.9, 629-633 (2012) Health /10.4236/health.2012.49099 Atypical presentations of propionic acidemia Ali M. Al-Asmari, AbdulKarim S. Al-Makadma * Department of Pediatrics, Children’s Hospital, King Fahad Medical City, KSA; Received 8 June 2012; revised 10 July 2012; accepted 27 July 2012 * Corresponding Author: al_makadma@ ABSTRACT drial enzymes Propionyle-CoA Carboxylase (PCC) that leads to accumulation of Propionic acid leading to bio- chemical features including profound metabolic acidosis, hypoglycemia, and hyperammonemia [2-4]. The PCC is a heteropolymeric enzyme which is composed of 2 sub units α and β in a proposed α6β6 configurative [5-9]. Affected patients fall in 3 groups; PCCA, PCCB and PCCBC (PCCB PCCC) [8]. The pccBC group possi- bly reflects mutations of the α-subunit while mutation of β-subunits is reflected by group pccA [9,10]. While the incidence of PA estimated internationally to be 1:50000 at [5], that in the Kingdom of Saudi Arabia (KSA) is estimated to be 1:2000 to 1:5000 depending on the re- gion [11,12]. Most of the affected babies, if not treated, die in the neonatal period or during the first 10 years of life [13,14]. The clinical presentations may start during the first 3 months of life (early onset). About 60% of cases present during the neonatal period, while few of them present as late onset. The presentation may include lethargy, vomiting, hy- potonia, convulsions, decreased activity or loss of con- sciousness with evidence of high anion gap metabolic acidosis, which is one of the most constant biochemical findings [3,15-17]. Both early and late onset PA can cause severe and permanent neurological damage [17,18]. The degree of neurological insult is related to the degree of Hyperam- monemia [17]. Urine Gas Chromatography/Mass Spec- trometry (GC/MS) Mass Spectrometry (MS/MS) and/ or fibroblast culture for enzymatic assa