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Table 3 Comparison of signs and symptoms in epi-cblC and canonical-cblC patients

From: PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations

  Epi-cblC Canonical-cblCa
Number of reported cases 11 (this study) 169
Eating disorders/failure to gain weight   
Small for gestational age ++ [2 Pts] +
Feeding difficulties, failure to thrive ++++ [9 Pts] +++
Nervous system   
Decreased consciousness and/or apnoea ++++ [7 Pts] ++
Seizures +++ [5 Pts] +++
Ataxia +
Movement disorder and/or abnormal muscle tone ++++ [9 Pts] +++
Peripheral neuropathy/subacute degeneration of spinal cord (+) ++
Hydrocephalus ++
Visual impairment (retinopathy, optic atrophy) ++++ [9 Pts] +++
Developmental disorder/cognitive impairment ++++ [8 Pts] +++
Behavioural/mental disorders ++ [2 Pts] ++
Microcephaly (+) ++
Blood and bone marrow   
Megaloblastic anaemia +++ [5 Pts] ++
Pancytopenia/neutropenia (+) ++
Recurrent severe infections +++ [4 Pts] (+)
Kidneys   
Haemolytic uraemic syndrome ++ [2 Pts] ++
Glomerulopathy +
Tubulointerstitial nephropathy +
Cardiopulmonary   
Cardiac malformation ++ [2 Pts] +
Cardiomyopathy (+) ++
Interstitial pneumonia +
Pulmonary hypertension +
Vascular   
Stroke (+) (+)
Venous thrombosis/embolism (+) +
Malformations   
Facial dysmorphism ++ [2 Pts] +
Skeletal deformity +++ [3 Pts] (+)
Gastrointestinal   
Cheilitis/gastritis (+)
Liver steatosis +
Skin   
Dermatitis/rash/hyperpigmentation +
Other   
Hydrops foetalis +
Metabolic acidosis and/or hyperammonaemia +++ [5 Pts] +
Temperature instability/hypothermia (+) +
  1. ++++, very frequently (> 50% of cases);+++, frequently (25–50% of cases);++, infrequently (10–25% of cases);+, occasionally seen (< 10% of cases); (+) single case reports, probably disease-related conditions; -, absent/not reported; Pts, patients. The number of our epi-cblC patients who exhibited that sign/symptom is indicated in square brackets
  2. aClinical data for canonical-cblC patients (signs, symptoms and their frequencies) are derived from Huemer et al. [12]