Parathyroid hormone resistance and B cell lymphopenia in propionic acidemia

Acta Paediatr. 1996 Jul;85(7):875-8. doi: 10.1111/j.1651-2227.1996.tb14172.x.

Abstract

The mechanisms of hypocalcemia, recurrent infections and hypogammaglobulinemia associated with metabolic decompensation of propionic acidemia due to propionyl-CoA carboxylase deficiency have not been defined. A 7-week-old infant with this disorder presented with severe hypocalcemia and B cell lymphopenia during an episode of metabolic acidosis and hyperammonemia. Hypocalcemia (1.1 mmol l-1) was associated with elevated serum intact parathyroid hormone (122 ng l-1), hyperphosphatemia, hypophosphaturia and hypercalcuria, indicating parathyroid hormone resistance. B cell lymphopenia (20 cells microliters-1) was associated with transient neutropenia, anemia and subsequent hypogamma-globulinemia (IgG < 294 mg dl-1, IgM < 8 mg dl-1, IgA < 8 mg dl-1), while T cells were normal. Parathyroid hormone resistance and B cell lymphopenia resolved following treatment with hemodialysis, diet and carnitine. These complications may be due to interference with parathyroid hormone renal tubular action and B cell maturation/proliferation by accumulated organic acids.

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / complications*
  • Amino Acid Metabolism, Inborn Errors / therapy
  • B-Lymphocytes*
  • Female
  • Humans
  • Hypocalcemia / etiology
  • Immunoglobulins / deficiency
  • Infant
  • Lymphopenia / etiology*
  • Parathyroid Hormone / physiology*
  • Propionates / blood*

Substances

  • Immunoglobulins
  • Parathyroid Hormone
  • Propionates