Clinical features and outcomes of patients with cblC type methylmalonic acidemia carrying &amp;lt;italic&amp;gt;&amp;lt;bold&amp;gt;MMACHC&amp;lt;/bold&amp;gt;&amp;lt;/italic&amp;gt; gene c.609G&amp;gt;A mutation

Yu, Yue; Ling, Shiying; Shuai, Ruixue; Qiu, Wenjuan; Zhang, Huiwen; Liang, Lili; Ji, Wenjun; Liu, Yuchao; Gu, Xuefan; Han, Lianshu

doi:10.3724/zdxbyxb-2021-0276

Cited by 5 publications

(3 citation statements)

References 17 publications

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“…The most common mutations reported include c.271dupA (p.R91Kfs*14), c. 331C>T (p.R111X), and c.394C>T (p.R132X) [13] . However, the most common mutation in Chinese patients is c.609G>A (55.4%) [13] . In the patient whose case is reported here, gene sequencing revealed a compound heterozygous mutation in the MMACHC gene c.445_446insA (p.C149fsX1) and c.609G>A (p.W203X), resulting in MMA.…”

Section: Discussionmentioning

confidence: 99%

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Central Precocious Puberty in a Chinese Girl with cblC-Type Methylmalonic Acidemia: a case report

Liu,

Ma,

Zheng

2024

Preprint

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Background Cobalamin C-type methylmalonic acidemia (cblC-type MMA) is an autosomal-recessive genetic disease characterized by intracellular cobalamin (vitamin B12) metabolic disorder caused by MMACHC mutations. cblC-type MMA has diverse clinical manifestations due to the dysfunction of multiple organs. Central precocious puberty (CPP) is caused by early activation of the hypothalamus-pituitary-gonad axis before 8 years of age for girls and 9 years of age for boys. Case presentation: A Chinese girl was diagnosed with cblC-type MMA at 33 days old with elevated serum levels of methylmalonic acid and homocysteine. Genetic screening revealed compound heterozygous mutations in exon 4 of the MMACHC gene, the variants were c.445_446insA (p.C149XfsX1) inherited from father and c.609G > A (p.W203X) inherited from the mother. She was treated with special formula powder (isoleucine, methionine, threonine and proline removed) and an intramuscular injection of hydroxycobalt ammonium, oral L-carnitine and betaine after diagnosis. She showed breast development, elevated baseline levels of sex hormones and increased uterine volume at 7 years and 9 months of age, and CPP was definitively diagnosed. Gonadotrophin releasing hormone analogue (GnRHa) and rhGH were used to protect growth for the patient without obvious side effects up to date. Conclusions Abnormal metabolites of methionine due to MMACHC gene mutations, may lead to CPP in children with MMA. For patients diagnosed with both MMA and CPP, combined treatment with GnRHa and rhGH may be safe and sufficient to improve adult height.

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Section: Discussionmentioning

confidence: 99%

“…At present, the American College of Medical Genetics (ACMG) has reported 112 pathogenic mutations in the MMACHC gene. The most common mutations reported include c.271dupA (p.R91Kfs*14), c. 331C>T (p.R111X), and c.394C>T (p.R132X) [13] . However, the most common mutation in Chinese patients is c.609G>A (55.4%) [13] .…”

Section: Discussionmentioning

confidence: 99%

Central Precocious Puberty in a Chinese Girl with cblC-Type Methylmalonic Acidemia: a case report

Liu,

Ma,

Zheng

2024

Preprint

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“…Many different mutations can be seen in the same disease group. In addition, it may show clinical variability according to mutation [42][43][44][45]. Clinicians' detection of the mutation type plays a role in identifying variants that cause symptomatic disease and may also be a guide in gene therapy [45].…”

Section: Discussionmentioning

confidence: 99%

Inherited Metabolic Diseases from Past to Present: A Bibliometric Analysis (1968–2023)

Yılmaz

Akgül

2023

Children

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Bibliometric studies on inherited metabolic diseases (IMDs) do not exist in the literature. Therefore, our research aims to conduct a bibliometric study to determine the current status, trending topics, and missing points of publications on IMDs. Between 1968 and 2023, we conducted a literature search with the keyword “inherited metabolic disease” in the SCOPUS database. We included research articles in medicine written in English and published in the final section. We created our data pool using VOSviewer, SciMAT, and Rstudio software programs for the bibliometric parameters of the articles that met the inclusion criteria. We performed a bibliometric analysis of the data with the R package “bibliometrix” and BibExcel programs. We included 2702 research articles published on IMDs. The top three countries that have written the most articles in this field are the USA (n = 501), the United Kingdom (n = 182), and China (n = 172). The most preferred keywords by the authors were: newborn screening (n = 54), mutation (n = 43), phenylketonuria (n = 42), children (n = 35), genetics (n = 34), and maple syrup urine disease (n = 32). Trending topics were osteoporosis, computed tomography, bone marrow transplantation in the early years of the study, chronic kidney disease, urea cycle disorders, next-generation sequencing, newborn screening, and familial hypercholesterolemia in the final years of the study. This study provides clinicians with a new perspective, showing that molecular and genetic studies of inherited metabolic diseases will play an essential role in diagnosis and treatment in the future.

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Inherited Metabolic Diseases From Past to Present: A Bibliometric Analysis (1968-2023)

Yılmaz¹,

Akgül²

2023

Preprint

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Bibliometric studies on inherited metabolic diseases(IMDs) didn't exist in the literature.Our research aims to conduct a bibliometric study to determine the current status,trending topics,and missing points of publications on IMDs.Between 1968-2023, we conducted a literature search with keyword "inherited metabolic disease" in the SCOPUS-database.We included research articles in medicine written in English,published in the final section.We created our data pool using VoSviewer, SciMAT, and Rstudio software programs for bibliometric parameters of the articles that met the inclusion criteria.We performed bibliometric analysis of the data with R-package "bibliometrix" and BibExcel programs.We included 2702 research articles published on IMDs.Top three countries that have written the most articles in this field are; USA(n= 501), United Kingdom(n=182), and China(n= 172).The most preferred keywords by the authors were;newborn screening(n=54), mutation(n=43), phenylketonuria(n=42), children(n=35), genetics(n= 34) and maple syrup urine disease(n=32).Trending topics were osteoporosis, computed tomography, bone marrow transplantation in the early years of the study, chronic kidney disease, urea cycle disorders, next-generation sequencing, newborn screening, and familial hypercholesterolemia in the final years of the study. This study provides clinicians with a new perspective showing that molecular and genetic studies in inherited metabolic diseases will play an essential role in diagnosis and treatment in the future.

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Clinical features and outcomes of patients with cblC type methylmalonic acidemia carrying <italic><bold>MMACHC</bold></italic> gene c.609G>A mutation

Cited by 5 publications

References 17 publications

Central Precocious Puberty in a Chinese Girl with cblC-Type Methylmalonic Acidemia: a case report

Central Precocious Puberty in a Chinese Girl with cblC-Type Methylmalonic Acidemia: a case report

Inherited Metabolic Diseases from Past to Present: A Bibliometric Analysis (1968–2023)

Inherited Metabolic Diseases From Past to Present: A Bibliometric Analysis (1968-2023)

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