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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]