A case of functional vitamin B12 deficiency after recreational nitrous oxide use
Biochem Med (Zagreb). 2024 Feb 15;34(1):010801. doi: 10.11613/BM.2024.010801. Epub 2023 Dec 15.ABSTRACTThe recreational use of nitrous oxide as laughing gas becomes a real public health issue among adolescents and young adults. Chronic use is deleterious and can lead to severe neurological disorders. Nitrous oxide inactivates vitamin B12, and the functional defect of vitamin B12 plays a major role in the pathogenesis of nitrous oxide-related neurological disorders. Here we report the case of a 22-year-old woman who came to the hospital after an unexplained loss of consciousness. She exhibited typical features of vitamin B1...
Source: Biochemia Medica - December 21, 2023 Category: Biochemistry Authors: Damien Leleu Damien Denimal Source Type: research

Genetic analysis of isolated methylmalonic acidemia in Henan, China: c.1663G & gt;A variant of MMUT prevalent in the Henan population
CONCLUSION: The rare variant c.1663G>A is prevalent in the Henan population, and infants with this variant tend to have good prognosis. Our findings, especially novel variants, will help broaden the spectrum of genetic variants and facilitate clinical diagnosis and genetic counselling for affected families.PMID:38128819 | DOI:10.1016/j.cca.2023.117729 (Source: International Journal of Clinical Chemistry)
Source: International Journal of Clinical Chemistry - December 21, 2023 Category: Chemistry Authors: Yaqing Guo Xinyun Zhu Liying Song Yu Wang Jinshuang Gao Erfeng Yuan Haiyang Yu Yang Fang Qianqian Shi Dehua Zhao Linlin Zhang Source Type: research

A case of functional vitamin B12 deficiency after recreational nitrous oxide use
Biochem Med (Zagreb). 2024 Feb 15;34(1):010801. doi: 10.11613/BM.2024.010801. Epub 2023 Dec 15.ABSTRACTThe recreational use of nitrous oxide as laughing gas becomes a real public health issue among adolescents and young adults. Chronic use is deleterious and can lead to severe neurological disorders. Nitrous oxide inactivates vitamin B12, and the functional defect of vitamin B12 plays a major role in the pathogenesis of nitrous oxide-related neurological disorders. Here we report the case of a 22-year-old woman who came to the hospital after an unexplained loss of consciousness. She exhibited typical features of vitamin B1...
Source: Biochemia Medica - December 21, 2023 Category: Biochemistry Authors: Damien Leleu Damien Denimal Source Type: research

Genetic analysis of isolated methylmalonic acidemia in Henan, China: c.1663G & gt;A variant of MMUT prevalent in the Henan population
CONCLUSION: The rare variant c.1663G>A is prevalent in the Henan population, and infants with this variant tend to have good prognosis. Our findings, especially novel variants, will help broaden the spectrum of genetic variants and facilitate clinical diagnosis and genetic counselling for affected families.PMID:38128819 | DOI:10.1016/j.cca.2023.117729 (Source: International Journal of Clinical Chemistry)
Source: International Journal of Clinical Chemistry - December 21, 2023 Category: Chemistry Authors: Yaqing Guo Xinyun Zhu Liying Song Yu Wang Jinshuang Gao Erfeng Yuan Haiyang Yu Yang Fang Qianqian Shi Dehua Zhao Linlin Zhang Source Type: research

A case of functional vitamin B12 deficiency after recreational nitrous oxide use
Biochem Med (Zagreb). 2024 Feb 15;34(1):010801. doi: 10.11613/BM.2024.010801. Epub 2023 Dec 15.ABSTRACTThe recreational use of nitrous oxide as laughing gas becomes a real public health issue among adolescents and young adults. Chronic use is deleterious and can lead to severe neurological disorders. Nitrous oxide inactivates vitamin B12, and the functional defect of vitamin B12 plays a major role in the pathogenesis of nitrous oxide-related neurological disorders. Here we report the case of a 22-year-old woman who came to the hospital after an unexplained loss of consciousness. She exhibited typical features of vitamin B1...
Source: Biochemia Medica - December 21, 2023 Category: Biochemistry Authors: Damien Leleu Damien Denimal Source Type: research

Genetic analysis of isolated methylmalonic acidemia in Henan, China: c.1663G & gt;A variant of MMUT prevalent in the Henan population
CONCLUSION: The rare variant c.1663G>A is prevalent in the Henan population, and infants with this variant tend to have good prognosis. Our findings, especially novel variants, will help broaden the spectrum of genetic variants and facilitate clinical diagnosis and genetic counselling for affected families.PMID:38128819 | DOI:10.1016/j.cca.2023.117729 (Source: International Journal of Clinical Chemistry)
Source: International Journal of Clinical Chemistry - December 21, 2023 Category: Chemistry Authors: Yaqing Guo Xinyun Zhu Liying Song Yu Wang Jinshuang Gao Erfeng Yuan Haiyang Yu Yang Fang Qianqian Shi Dehua Zhao Linlin Zhang Source Type: research

A case of functional vitamin B12 deficiency after recreational nitrous oxide use
Biochem Med (Zagreb). 2024 Feb 15;34(1):010801. doi: 10.11613/BM.2024.010801. Epub 2023 Dec 15.ABSTRACTThe recreational use of nitrous oxide as laughing gas becomes a real public health issue among adolescents and young adults. Chronic use is deleterious and can lead to severe neurological disorders. Nitrous oxide inactivates vitamin B12, and the functional defect of vitamin B12 plays a major role in the pathogenesis of nitrous oxide-related neurological disorders. Here we report the case of a 22-year-old woman who came to the hospital after an unexplained loss of consciousness. She exhibited typical features of vitamin B1...
Source: Biochemia Medica - December 21, 2023 Category: Biochemistry Authors: Damien Leleu Damien Denimal Source Type: research