Atypical glomerulopathy associated with the cblE inborn error of vitamin B12 metabolism

Erin A. Paul, Marta Guttenberg, Paige Kaplan, David Watkins, David S. Rosenblatt, James R. Treat, Bernard S. Kaplan

Research output: Contribution to journalArticlepeer-review

8 Scopus citations


Background: The cblE disorder is an inherited disorder of vitamin B 12 metabolism that results in elevated levels of homocysteine and decreased methionine in body fluids. Renal complications have been reported in patients with cblC disease, but not in those with cblE disease. The renal complications of cblC disease include thrombotic microangiopathy (TMA), neonatal hemolytic uremic syndrome, chronic renal failure, tubulointerstitial nephritis and proximal renal tubular acidosis. Previously, we reported a patient with cblC disease who had an atypical glomerulopathy that manifested with proteinuria and progressive renal insufficiency. Case-Diagnosis/Treatment: Studies were done on cultured fibroblasts. Renal biopsy tissue was examined by light and electron microscopy. There was decreased incorporation of labeled methyltetrahydrofolate and decreased synthesis of methylcobalamin. Complementation analysis placed the patient into the cblE complementation group. The findings from the histological and ultrastructural studies of renal biopsy were similar, but not identical, to those of idiopathic membranoproliferative glomerulonephritis (MPGN) and overlapped with those of TMA. Conclusions: We describe a patient with cblE disease who had an atypical glomerulopathy similar to MPGN. Additional findings included migraine headaches, hypothyroidism and livedo reticularis.

Original languageEnglish (US)
Pages (from-to)1135-1139
Number of pages5
JournalPediatric Nephrology
Issue number7
StatePublished - Jul 1 2013
Externally publishedYes


  • Cobalamin metabolism
  • Membranoproliferative glomerulonephritis
  • Thrombotic microangiopathy
  • Vitamin B
  • cblE disorder

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Nephrology


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