Recently, professor Yan Chuanzhu's research team from Department of Neurology, Qilu Hospital of SDUpublished papertitled "Reversible encephalopathy caused by an inborn error of cobalamin metabolism"on The Lancet, a leading international medical journal. Dr.Wang Shengjun and Dr.Zhao Yuying are the co-first authors, and Yan is the corresponding author.

This paper presented a case of treatable late-onset inborn error of cobalmin metabolism. It shows that a 19-year-old female suffered from behaving strangely for 6 months and walking unstably with abnormal posture for 6 weeks. After admission, her cognitive ability was found declined with hypermytonia. A T2-weighted MRI of her brain showed hyperintensity bilaterally in the cerebellum and in the right basal ganglia, and modest atrophy of the cerebrum was also seen. The routine laboratory investigations showed no obvious abnormalities, except the hyperhomocysteinemia and methylmalonicacidemia. Genetic testing showed pathogenic compounded heterozygous mutations of the MMACHC gene. The patient was therefore, diagnosed with late-onset type of cobalamin C (cblC) disease, namely methylmalonicacidemia (MMA) with hyperhomocysteinemia type C (MMACHC). After 4 weeks of treatment of intramuscular supplement of cobalamin, she recovered very well with a steady gait and improved cognitive function. A further MRI under taken at follow-up showed that the hyperintensity had almost disappeared. However, the cerebral atrophy was still present.

Learning from the author, the 19-year-old female patient mentioned in this article was diagnosed in 2013, who had received antipsychotic therapy for six months before diagnosis as cblC disease. After a continuous intramuscular injections of cobalamin and supplement of betaine, she had a good recovery and now she's already the mother of two children. So far, more than 40 cases of late-onset cblC disease have been diagnosed and treated successfully in our hospital.

The Lancet is a leading medical journal in the world, with its independent and authoritative voice delivering the latest and high-level information in the field of medical research worldwide. Its huge capacity of information, authoritative and novel contents make it one of the most influential top journals in the global clinical medicine. Its influence in the medical field even exceeds that ofNature and Science. Although this article is a clinical case report, it reflects that the treatable inborn errors ofmetabolism(IEMs) are paid more attention by the high-level international journals and academic world, on the other hand, it testified the ability of Qilu Hospital in diagnosis and treatment of IEMs.

Written by: Wang Wenfei

Edited by: Che Huiqing