Recurrent Acute Pancreatitis Associated with Propionic Acidemia

• DOI: 10.1097/mpg.0b013e3181132252
• Publication Date: 2008-08-19T07:07:55Z
• Authors: Gilberto Bultron; Margretta R Seashore; Dinesh S Pashankar; Sohail Z Husain
• Keywords: Propionic acidemia; Tachypnea; Metabolic disorder

Propionic acidemia (PA) is a severe metabolic disorder of infants and children (1), resulting from defect in the mitochondrial enzyme propionyl-coenzyme A carboxylase (PCC). PA inherited an autosomal recessive manner. Patients experience acidosis, ketosis, seizures, mental retardation. Acute pancreatitis potentially life-threatening inflammatory that has many known inciting factors, including derangements (2,3). However, although acute been associated with (4,5), recurrent rare. We report case infant whom developed. CASE REPORT The patient was 18-month-old girl who brought to Yale-New Haven Hospital October 2000 abdominal pain vomiting. Her medical history significant for PA. At 3 days life, she had tachypnea, poor feeding, hypotonia, acidosis. time, urine organic acid profile revealed excretion methylcitrate 3-hydroxy-propionate. confirmed by demonstration reduced PCC activity cultured fibroblasts. condition stabilized after resuscitation intravenous fluids glucose. Under treatment Propimex, Pro-free, low-fat milk, achieved good control. 18 months age, hospital 1-day vomiting pain. She not taking any medications, there no trauma. vital signs were normal, respiratory distress. anicteric. abdomen diffusely tender without guarding or rebound. There rash edema. normal capillary refill. electrolytes unremarkable (Na 137 mmol/L, K 4.4 HCO3 27 Cl 97 serum urea nitrogen 5 mg/dL, Cr 0.4 glucose 67 mg/dL.). white blood cell count 15 × 103/μL, her hemoglobin 11 mg/dL. amylase (551 U/L, 40–150) lipase (7.9 U/ml, <1.5) greater than times upper limit normal. Abdominal ultrasound showed edematous pancreas. No biliary stones noted, common bile duct size. gallbladder Ca2+ (9.9 mg/dL; 8.8–10.2), triglyceride level mildly elevated (mean, 309 mg/mL; 30–150). patient's episode improved bowel rest, fluids, meperidine. recurred 6 later. pancreatic levels resolved weeks parenteral nutrition, 24 recurred, similar clinical biochemical presentations. lasted 4 weeks, despite supportive treatment. went on have 2 additional episodes at ages 52 64 months, each lasting between (Table 1). last years further time this report, when 7 old. None evidence chronic pancreatitis; growth, steatorrhea, calcifications ultrasound. result sweat test within limits. family cancer.TABLE 1: Age during pancreatitis, elevations, duration episodeDISCUSSION pancreatitis. To our knowledge, are only previously reported patients (4,5). Marsden et al (4) 7-year-old experienced died second as basal ganglia infarction. Notably, instability preceding terminal period. Burlina (5) cases 3-year-old boy 1 month apart. least ketonuria weeks. involved 6-year-old diffuse autopsy. shock, it unclear whether ischemia multiorgan dysfunction because radiographic presentation. Our earlier age onset reported. episodes. course (5). Finally, severity mild moderate. On basis these limited trends, setting may longer other causes can occur What caused patient? excluded such stones, ductal defects, Thus, we speculate be primary contributor. both cellular systemic direct (1). Substrates odd chain fatty acids shown accumulate (6). It well hypertriglyceridemia risk factor (7), animal models suggest elevations free sensitize pancreas (8,9). possible explanation child could upregulation observed notable (mean mg/mL). By itself, does seem explain most reports linking >1000 mg/dL (7). In absence PCC, shunted pathways produce acidic byproducts cells lead ketoacidosis. Recently acidosis sensitizing pathological activation protease proenzymes, zymogens, acinar cell, which early critical event (10). Even though did correlate pH low, its compartments predisposed Mitochondrial provide yet another (11). recently appreciated mitochondria play role generating adenosine triphosphate but also buffering cytosolic calcium physiological (12). predisposes high globalized dysfunction. summary, explanations association. Prevention requires development new insights into pathophysiology involved. This discussion offers possibilities study disorders. diagnosis should considered