Emergency Department Presentation of Biotinidase Deficiency: Fulminant Sepsis in a 4-Year-Old Hispanic Male

Abstract

Key Words: apocarboxylase, biotin, biotinidase, biotinidase deficiency, candida albicans, carboxylase, hyperammonemia immune deficiency/dysfunction, inborn/inherited errors of metabolism, lactic acidosis, metabolic acidosis, sepsis, staphylococcal toxic shock syndrome B iotin acts as an essential cofactor in multiple biochemical pathways. Dietary biotin deficiency is rare as biotin is plentiful in a balanced diet. The enzyme biotinidase recycles dietary biotin. Deficiency in biotinidase presents in a manner similar to that of biotin deficiency itself. Biotin deficiency, and therefore, biotinidase deficiency, present with characteristic metabolic, neurologic, dermatologic, and immunologic abnormalities. This case report discusses the pathophysiology and complications of biotinidase deficiency and illustrates a common presentation of an uncommon, potentially fatal error of metabolism. CASEA 4-year-old Hispanic male presented to the emergency department with a 1-day history of increased work of breathing, severe vomiting, and abdominal pain. Two days prior to arrival, he had begun to complain of right knee pain and difficulty bearing weight. His parents denied knowledge of a precipitating traumatic event. On the day prior to arrival, his knee pain had resolved, but he began to have multiple episodes of emesis and was intolerant of oral intake. He was noted to have felt warm at home, but the family did not take the child's temperature.His past medical history was significant for psoriasis diagnosed 1 year previously in Mexico. His parents stated that he was admitted to the hospital for 1 week with generalized skin peeling and alopecia. The parents believed he may have undergone a skin biopsy in Mexico, but they were not aware of the results. He had no known drug allergies, took no medications, and had an upto-date immunization history. Developmentally, the child appeared to be appropriate for his age. There was no significant family history, and his social history was significant for a recent move to the United States from Mexico. He lived with his parents and siblings, all of whom had no significant past medical history. Of note, his parents were first cousins.Vital signs were the following: heart rate, 140; respiratory rate, 28; blood pressure, 78/38; temperature, 39.08C. His physical examination revealed a lethargic, acutely ill-appearing 4-year-old male with anicteric sclera, dry mucous membranes, and sunken eyes. The neck was supple and without lymphadenopathy. Cardiac examination revealed a grade II/VI systolic murmur. Lung examination indicated tachypnea but no wheezing, rales, ronchi, or retractions. The abdomen was distended and moderately tender to palpation but there was neither guarding nor rebound. His neurologic examination was nonfocal, but the child was globally lethargic. There was desquamation observed in the skin folds of the arms. Laboratory evaluation revealed a sodium level of 137 mEq/L, potassium level of 2.2 mEq/L, a chloride level of 98 mEq/L, a bicarbonate level of 12 mEq/L, a blood urea nit...

Ohtahara Syndrome With Biotinidase Deficiency

“…8 Most children suffer a combination of neurologic, cutaneous, and respiratory symptoms and have abnormal metabolic alterations such as ketolactic acidosis and organic aciduria. 9 The precipitation of these symptoms may be associated with metabolic stressors such as sepsis and fever, 10 as was seen in our case.…”

Increased incidence of profound biotinidase deficiency among Hispanic newborns in California

“…A single case of biotinidase deficiency was reported in a patient of Hispanic (Mexican) origin [12], but no systematic screening of this population has been done until now. Because the majority of Hispanics in California are of Mexican ancestry, our results indicate that the c.528G>T allele is likely of Mexican origin.…”