Abstract
Gompertz et al reported a case of biotin-dependent propionic acidemia and β-methyl crotonic acidemia now thought to have a defect in biotin ligase. We report a second biotin dependent case with only propionic acidemia.
The patient had pernicious vomiting and poor growth. Serum glycine and NH3 were elevated on only single occasions. Serum propionate concentrations (PA) were 40 and 130 μM (norm <5). Urine tiglic acid and butanone were detectable. Clinical response to biotin (10 mg/day) and a low protein diet (1.2 gm/kg) was rapid. While on the diet biotin was stopped. PA rose in 48 hrs but did not peak for 6 weeks. (Day 0, 4.5 μM; day 5, 12 μM; day 7, 16 μM; day 46, 40 μM) During this period urine propionate excretion increased over 400 fold. In response to a minor infection, the child became acidotic, hypoglycemic, and comatose. She recovered with fluids and biotin and has remained normal since. PA returned toward normal. At no time were serum β-methyl crotonate or urine β-OH isovaleric or β-methylcrotonylglycine increased. In leukocytes, before receiving biotin, isoleucine oxidation was reduced; 4 wks off biotin propionyl CoA carboxylase was in our low normal range and stimulated 3 fold with biotin. In fibroblasts grown in biotin containing medium, propionyl CoA carboxylase was 26% of normal controls. β-Methyl crotonyl CoA carboxylase was normal in both leukocytes and fibroblasts.
These findings are most consistent with a biotin binding defect to propionyl CoA carboxylase.
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Hillman, R., Williams, J. BIOTIN-DEPENDENT PROPIONIC ACIDEMIA: A NEW VARIANT. Pediatr Res 11, 457 (1977). https://doi.org/10.1203/00006450-197704000-00525
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DOI: https://doi.org/10.1203/00006450-197704000-00525
