MMACHC gene mutation in familial hypogonadism with neurological symptoms
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- 作者：Changhe Shia ; 1 ; Dandan Shanga ; 1 ; Shilei Suna ; Chengyuan Maoa ; Jie Qina ; Haiyang Luoa ; Mingwei Shaob ; Zhengguang Chenc ; Yutao Liua ; Xinjing Liua ; Bo Songa ; Yuming Xua ; xuyuming@zzu.edu.cn" class="auth_mail" title="E-mail the corresponding author
- 关键词：MMA ; methylmalonic aciduria ; GC-MS ; gas chromatography-mass spectrometry ; HPG ; hypothalamic&ndash ; pituitary&ndash ; gonadal ; MRI ; magnetic resonance imaging ; MMSE ; Mini-Mental State Examination ; MoCA ; Montreal Cognitive Assessment ; SARA ; Scale for the Assessment and Rating of Ataxia ; DNA ; deoxyribonucleic acid ; SNP ; single nucleotide polymorphisms ; PCR ; polymerase chain reaction ; MeCbl ; methylcobalamin ; AdoCbl ; adenosylcobalamin ; MCM ; methylmalonyl-CoA mutase ; T2-FLAIR ; T2 fluid attenuated inversi
- 刊名：Gene
- 出版年：2015
- 出版时间：15 December 2015
- 年：2015
- 卷：574
- 期：2
- 页码：380-384
- 全文大小：629 K
文摘
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Hypogonadism may be a novel clinical manifestation of cblC disease.
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Gonadal function should be monitored in this disorder.
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Early supplementation of vitamin B12 may prevent gonadal damage in cblC disease.