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. 2016 Jun 11;32(5):733–741. doi: 10.1007/s00467-016-3399-0

Table 4.

Methylmalonic aciduria and homocystinuria, cobalamin C (cblC) complementation type (MMACHC): general, renal, and extrarenal characteristics

Manifestation data
Onset of disease
 Infantile onset 44 %, (n = 16/36)
 Noninfantile onset 56 %, (n = 20/36)
Characteristics of renal disease
 Proteinuria and hematuria 100 %, (n = 27/27)
  Hemolytic uremic syndrome 66 %, (n = 24/36)
 Normotensive 10 %, (n = 2/20)
 Hypertensive 90 %, (n = 18/20)
 Nephrotic syndrome 11 %, (n = 3/27)
 Chronic kidney disease (CKD) 1 11 %, (n = 4)
 CKD 2–5 89 %, (n =32)
 Dialysis 22 %, ( n = 8)
Kidney transplant 6 %, (n = 2)
Extrarenal manifestations
 Neurological impairment 44 %, (n = 16/36)
 Cardiopulmonary involvement 39 %, (n = 14/36)
 Pulmonary hypertension 17 %, (n = 6/36)