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Parathyroid hormone resistance and B cell lymphopenia in propionic acidemia
Author(s) -
Griffin TA,
Hostoffer RW,
Tserng KY,
Lebovitz DJ,
Hoppel CL,
Mosser JL,
Kaplan D,
Kerr DS
Publication year - 1996
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1996.tb14172.x
Subject(s) - medicine , endocrinology , hypogammaglobulinemia , parathyroid hormone , metabolic acidosis , renal tubular acidosis , acidosis , immunology , calcium , antibody
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 mmoll 1 ) was associated with elevated serum intact parathyroid hormone (122 ng 1 1 ), hyperphosphatemia, hypophosphaturia and hypercalcuria, indicating parathyroid hormone resistance. B cell lymphopenia (20 cells μl ‐1 ) was associated with transient neutropenia, anemia and subsequent hypogammaglobulinemia (IgG < 294mgdl ‐1 , IgM < 8mgdl ‐1 , IgA < 8mgdl 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.