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| Content Provider | Springer Nature Link |
|---|---|
| Author | Imataka, George Sakamoto, Osamu Yamauchi, Hideo Yoshihara, Shigemi Omura Hasegawa, Yuki Tajima, Go Arisaka, Osamu |
| Copyright Year | 2013 |
| Abstract | We report herein a 1.5-year-old girl with methylmalonic acidemia (MMA) in whom two missense mutations were found: a novel I739T mutation located in exon 13 and the L494X mutation in exon 8. The results of organic acid test showed a pronounced increase in methylmalonate excretion with increased methylcitrate and 3-OH-propionate excretion, leading to a diagnosis of MMA, and Vitamin B12 administration was started. Analysis of the mut gene confirmed a T-to-A substitution at nucleotide position 1481 in exon 8 and a T-to-C substitution at nucleotide position 2216 in exon 13, leading to the amino acid isoleucine at position 739 being changed to threonine, resulting in c.2216T > C (p.I739T). The patient has now been on high-dose oral administration of Vitamin B12 and carnitine therapy (900 mg of levocarnitine chloride) for 5 years without experiencing further attacks, and her cognitive and motor development is normal. Further tests on residual enzyme activity, as well as experience with more cases, may shed light on the relationship between gene mutations and phenotypes in MMA. |
| Starting Page | 185 |
| Ending Page | 187 |
| Page Count | 3 |
| File Format | |
| ISSN | 10859195 |
| Journal | Cell Biochemistry and Biophysics |
| Volume Number | 67 |
| Issue Number | 1 |
| e-ISSN | 15590283 |
| Language | English |
| Publisher | Springer US |
| Publisher Date | 2013-03-12 |
| Publisher Place | Boston |
| Access Restriction | One Nation One Subscription (ONOS) |
| Subject Keyword | Methylmalonic acidemia l-Methylmalonyl-CoA mutase Vitamin B12 Biochemistry Pharmacology/Toxicology Biotechnology Cell Biology Biophysics and Biological Physics |
| Content Type | Text |
| Resource Type | Article |
| Subject | Cell Biology Medicine Biochemistry Biophysics |
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