Table 2 Clinical manifestations of 132 clinical diagnosed cblC patients caused by the MMACHC c.609G > A homozygous mutation
Clinical manifestations | Cases | Early-onset (n = 101) | Late-onset (n = 31) | P value | |||
|---|---|---|---|---|---|---|---|
n | % | n | % | n | % | ||
Developmental delay | 92 | 69.7 | 63 | 62.4 | 29 | 93.5 | 0.003 |
Epilepsy | 65 | 49.2 | 54 | 53.5 | 11 | 35.5 | 0.053 |
Anemia | 37 | 28.0 | 32 | 31.7 | 5 | 16.1 | 0.073 |
Feeding difficulty | 24 | 18.2 | 21 | 20.8 | 3 | 9.7 | 0.138 |
Hydrocephalus | 22 | 16.7 | 21 | 20.8 | 1 | 3.2 | 0.018 |
Ocular problems | 23 | 17.4 | 19 | 18.8 | 4 | 12.9 | 0.399 |
Vomiting | 19 | 14.4 | 15 | 14.9 | 4 | 12.9 | 0.951 |
Hypotonia/abnormal muscle tone | 15 | 11.4 | 10 | 9.9 | 4 | 12.9 | 0.944 |
Skin lesions | 12 | 9.1 | 11 | 10.9 | 1 | 3.2 | 0.319 |
Lactic acidosis | 6 | 4.5 | 6 | 5.9 | 0 | 0.0 | 0.335 |
Liver damage | 5 | 3.8 | 5 | 5.0 | 0 | 0.0 | 0.335 |
Renal damage | 2 | 1.5 | 1 | 1.0 | 1 | 3.2 | 0.427 |
Cardiomyopathy | 0 | 0.0 | 0 | 0.0 | 0 | 0.0 | |
Pulmonary hypertension | 0 | 0.0 | 0 | 0.0 | 0 | 0.0 | |