Clinical features of infantile organic acidemia accompanied with acute metabolic crisis

Abstract

Objective To investigate the clinical and laboratory characters of infantile organic acidemia(OA) accompanied with acute metabolic crisis. Methods We analyzed retrospectively datum of infants with OA diagnosed in our unit from April 2006 to October 2014. Results Fity-three cases(37 male and 16 female, aged under 1 year old) were enrolled in this study, in which, 28 cases were methylmalonic acidemia, 11 cases were propionic acidemia, 3 cases were biotinidase deficiency, 3 cases were glutaric acidemia type Ⅱ, 2 cases were glutaric acidemia type Ⅰ, 2 cases were isovaleric acidemia, 1 case was variety of coenzyme A carboxylase deficiency, 1 case was glycerol kinase deficiency, 1 case was 3-methylcrotonyl-CoA carboxylase deficiency and 1 case was holocarboxylase synthetase defect.Tweny-five of the 53 cases(47.2%) developed metabolic crisis within 7 days after onset, main manifestations included feeding difficulties, frequent seizures dyspnea, et al.The most common abnormal laboratory findings manifested severe hypoglycemia, intractable metabolic acidosis, hyperammonemia, et al.Twenty cases had family history.All patients were given symptomatic relief and supportive treatment, including colleting hypoglycemia, reducing hyperammonemia, keeping water, electrolyte and acid base balance, maintaining function of vital organs, suppling metabolic cofactor and special fomula, et al.After treatment, 32 cases(60.4%) improved markedly while death occurred in 15 cases(28.3%). Conclusion OA confirmed under 1 year old is especially vulnerable to acute metabolic crisis, which characterized by sudden onset, rapid progress and is difficult to treat.Feeding difficulties, frequent seizures and dyspnea were the very common presentations.Early diagnosis and timely treatment are critical for improving the prognosis.Clinicians should be aware of it, and an early metabolic disorders screening should be intervened in patients with hypoglycemia of unknown etiology or refractory metabolic acidosis. Key words: Organic acidemia; Metabolic crisis; Infant