Wang Xiaohong, Wu Shengnan, Du Mengmeng, et al. Clinical Diagnosis and Treatment Experience of Secondary Methylmalonic Acidemia Induced by VitaminB12 Deficiency in Infants. [J]. 30(1):32-37(2024)
DOI:
Wang Xiaohong, Wu Shengnan, Du Mengmeng, et al. Clinical Diagnosis and Treatment Experience of Secondary Methylmalonic Acidemia Induced by VitaminB12 Deficiency in Infants. [J]. 30(1):32-37(2024) DOI: 10.13407/j.cnki.jpp.1672-108X.2024.01.009.
Clinical Diagnosis and Treatment Experience of Secondary Methylmalonic Acidemia Induced by VitaminB12 Deficiency in Infants
treatment and prognosis of secondary methylmalonic acidemia (S-MMA) induced by vitamin B12 deficiency. Methods: Clinical manifestations
laboratory examinations
therapeutic effects
maternal pregnancy and biochemical characteristics of 11 children diagnosed with secondary S-MMA induced by vitamin B12 deficiency (S-MMA group) admitted into Henan Children’s Hospital from Jun. 2016 to Jun. 2022 were reviewed. Matching by age and gender at a 1 ∶ 3 ratio
contemporaneous cases diagnosed with cblC-type MMA (C-MMA group) and 10 cases of vitamin B12 deficiency without MMA (non-MMA group) were enrolled. SPSS 20. 0 was used to compare the clinical data of three groups. Results: The main clinical manifestations in three groups of children were anemia
vomiting and developmental delay. Magnetic resonance imaging (MRI) of children in both S-MMA and C-MMA groups showed delayed myelination. In the S-MMA group
the serum vitamin B12 levels increased after treatment compared with before treatment
while mean corpuscular volume (MCV)
homocysteine
acrylic carnitine (C3)
C3/ acetylcarnitine (C3/ C2) ratio
and urinary methylmalonic acid levels decreased
with statistically significant differences (P < 0. 05). The prognosis for S-MMA children was generally good
with very few (9%) showing mild intellectual impairment and motor delay due to delayed diagnosis and treatment. A comparison between S-MMA group and C-MMA group regarding serum vitamin B12 levels
MCV
total homocysteine
C3
C3/ C2 levels
and urinary methylmalonic acid levels before treatment showed statistically significant differences (P<0. 05). Conclusion: Vitamin B12 deficiency during pregnancy can cause S-MMA in infants
and special biochemical indicators can facilitate the early identification of S-MMA.