Table 1 Demographic and clinical features, genetic evaluation and prognosis of 4 Chinese patients with combined MMA and homocysteinemia

Gender

Female

Female

Female

Male

Age

21 months

4-years-7-months

8-years-5-months

7-years-8-months

Presentation

Cough,dyspnea

Slightly delayed intellectual and language development, cough,

short of breath

Decreased activity, vomiting,diarrhea, abnormal renal function,cough

Mild wet cough and shortness of breath

Weight(kg)/PCSAG

9.0/<3rd percentile

14.0/3rd percentile

18.5/<3rd percentile

16.0/<3rd percentile

Height(cm)/PCSAG

83/30th percentile

112/90th percentile

118/<3rd percentile

123/23th percentile

Head circumference(cm)

45.1/(normal)

No record

No record

50.2/(normal)

BMI(kg/m²)/PCSAG

13.0/<3rd percentile

11.16/<3rd percentile

13.29/8th percentile

10.58 < 3rd percentile

Respiratory rate(breaths/min)

40

28

22

20

Heart rate(beats/min)

145

102

110

90

Blood pressure(mmHg)

90/55

90/60

130/100

95/60

Clubbed fingers

+

+

+

+

Fundus examination

Normal

Bilateral macular coloboma

Normal

Normal

MMACHC gene

c.80A > G(p.Q27R),

c.331C > T(p.R111Ter)

Not available

c.80A > G(p.Q27R),

c.609G > A(p.W203X)

c.80A > G(p.Q27R),

c.609G > A(p.W203X)

Genotype

CblC

Not available

CblC

CblC

Follow-up

3 years

6 months

9 months

1 month

Prognosis

Asymptomatic

Improvement, but died suddenly

Improvement

Improvement