Improved biochemical and neurodevelopmental profiles with high‐dose hydroxocobalamin therapy in cobalamin C defect

羟钴胺 钴胺素 甲基丙二酸血症 甲基丙二酸 同型半胱氨酸尿 医学 同型半胱氨酸 内科学 胃肠病学 神经认知 反硫化 新生儿筛查 甲基丙二酸尿症 儿科 胱硫醚β合酶 氰钴胺 蛋氨酸 维生素B12 生物化学 精神科 认知 氨基酸 化学
作者
Giorgia Olivieri,Benedetta Greco,Sara Cairoli,Giulio Catesini,Francesca Romana Lepri,Lorenzo Orazi,Maria Mallardi,Diego Martinelli,Daniela Ricci,Raffaele Simeoli,Carlo Dionisi‐Vici
出处
期刊:Journal of Inherited Metabolic Disease [Springer Science+Business Media]
被引量:1
标识
DOI:10.1002/jimd.12787
摘要

Abstract Cobalamin C (Cbl‐C) defect causes methylmalonic acidemia, homocystinuria, intellectual disability and visual impairment, despite treatment adherence. While international guidelines recommend parenteral hydroxocobalamin (OH‐Cbl) as effective treatment, dose adjustments remain unclear. We assessed OH‐Cbl therapy impact on biochemical, neurocognitive and visual outcomes in early‐onset Cbl‐C patients treated with different OH‐Cbl doses over 3 years. Group A ( n = 5), diagnosed via newborn screening (NBS), received high‐dose OH‐Cbl (median 0.55 mg/kg/day); Group B1 ( n = 3), NBS‐diagnosed, received low‐dose OH‐Cbl (median 0.09 mg/kg/day); Group B2 ( n = 12), diagnosed on clinical bases, received low‐dose OH‐Cbl (median 0.06 mg/kg/day). Biochemical analyses revealed better values of homocysteine, methionine and methylmalonic acid in Group A compared to Group B1 ( p < 0.01, p < 0.05 and p < 0.01, respectively) and B2 ( p < 0.001, p < 0.01 and p < 0.001, respectively). Neurodevelopmental assessment showed better outcome in Group A compared to low‐dose treated Groups B1 and B2, especially in Developmental Quotient, Hearing and Speech and Performance subscales without significant differences between Group B2 and Group B1. Maculopathy was detected in 100%, 66% and 83% of patients in the three groups, respectively. This study showed that “high‐dose” OH‐Cbl treatment in NBS‐diagnosed children with severe early‐onset Cbl‐C defect led to a significant improvement in the metabolic profile and in neurocognitive outcome, compared to age‐matched patients treated with a “low‐dose” regimen. Effects on maculopathy seem unaffected by OH‐Cbl dosage. Our findings, although observed in a limited number of patients, may contribute to improve the long‐term outcome of Cbl‐C patients.
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