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atypical presentations of propionic acidemia非典型介绍丙酸血症.pdf

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atypical presentations of propionic acidemia非典型介绍丙酸血症

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; Corresponding Author: al_makadma@ Received 8 June 2012; revised 10 July 2012; accepted 27 July 2012 ABSTRACT drial enzymes Propionyle-CoA Carboxylase (PCC) that leads to accumulation of Propionic acid leading to bio- One of the most common recessively inherited chemical features including profound metabolic acidosis, organic acidemias is the Propionic Acidosis (PA) hypoglycemia, and hyperammonemia [2-4]. The PCC is which results from Propionyle-CoA Carboxylase a heteropolymeric enzyme which is composed of 2 sub (PCC) enzyme deficiency that is necessary for units α and β in a proposed α6β6 configurative [5-9]. the catabolism of the branched chain Amino Affected patients fall in 3 groups; PCCA, PCCB and Acids and other metabolites. Classically this PCCBC (PCCB PCCC) [8]. The pccBC group possi- disease presented with high anion gap meta- bly reflects mutations of the α-subunit while mutation of bolic acidosis