Methylmalonic Acidemia with Novel MUT Gene Mutations
A 5-year-old boy presented with recurrent episodes of fever, feeding problems, lethargy, from the age of 11 months, and poor weight gain. He was admitted and evaluated for metabolic causes and diagnosed as having methylmalonic acidemia (MMA). He was treated with vit B12 and carnitine supplements and...
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| Format: | Article |
| Language: | English |
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Wiley
2017-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2017/8984951 |
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| _version_ | 1832560379420475392 |
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| author | Inusha Panigrahi Savita Bhunwal Harish Varma Simranjeet Singh |
| author_facet | Inusha Panigrahi Savita Bhunwal Harish Varma Simranjeet Singh |
| author_sort | Inusha Panigrahi |
| collection | DOAJ |
| description | A 5-year-old boy presented with recurrent episodes of fever, feeding problems, lethargy, from the age of 11 months, and poor weight gain. He was admitted and evaluated for metabolic causes and diagnosed as having methylmalonic acidemia (MMA). He was treated with vit B12 and carnitine supplements and has been on follow-up for the last 3 years. Mutation analysis by next generation sequencing (NGS), supplemented with Sanger sequencing, revealed two novel variants in the MUT gene responsible for MMA in exon 5 and exon 3, respectively. Recently he developed dystonic movements including orofacial dyskinesia. With advent of NGS, judicious use of NGS with Sanger sequencing can help identify causative possibly pathogenic mutations. |
| format | Article |
| id | doaj-art-4f962c41d8a149e18e3c8ce6b650a620 |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2017-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-4f962c41d8a149e18e3c8ce6b650a6202025-02-03T01:27:39ZengWileyCase Reports in Genetics2090-65442090-65522017-01-01201710.1155/2017/89849518984951Methylmalonic Acidemia with Novel MUT Gene MutationsInusha Panigrahi0Savita Bhunwal1Harish Varma2Simranjeet Singh3Department of Pediatrics, Advanced Pediatric Centre, PGIMER, Chandigarh, IndiaDepartment of Pediatrics, Advanced Pediatric Centre, PGIMER, Chandigarh, IndiaDepartment of Pediatrics, Advanced Pediatric Centre, PGIMER, Chandigarh, IndiaDepartment of Pediatrics, Advanced Pediatric Centre, PGIMER, Chandigarh, IndiaA 5-year-old boy presented with recurrent episodes of fever, feeding problems, lethargy, from the age of 11 months, and poor weight gain. He was admitted and evaluated for metabolic causes and diagnosed as having methylmalonic acidemia (MMA). He was treated with vit B12 and carnitine supplements and has been on follow-up for the last 3 years. Mutation analysis by next generation sequencing (NGS), supplemented with Sanger sequencing, revealed two novel variants in the MUT gene responsible for MMA in exon 5 and exon 3, respectively. Recently he developed dystonic movements including orofacial dyskinesia. With advent of NGS, judicious use of NGS with Sanger sequencing can help identify causative possibly pathogenic mutations.http://dx.doi.org/10.1155/2017/8984951 |
| spellingShingle | Inusha Panigrahi Savita Bhunwal Harish Varma Simranjeet Singh Methylmalonic Acidemia with Novel MUT Gene Mutations Case Reports in Genetics |
| title | Methylmalonic Acidemia with Novel MUT Gene Mutations |
| title_full | Methylmalonic Acidemia with Novel MUT Gene Mutations |
| title_fullStr | Methylmalonic Acidemia with Novel MUT Gene Mutations |
| title_full_unstemmed | Methylmalonic Acidemia with Novel MUT Gene Mutations |
| title_short | Methylmalonic Acidemia with Novel MUT Gene Mutations |
| title_sort | methylmalonic acidemia with novel mut gene mutations |
| url | http://dx.doi.org/10.1155/2017/8984951 |
| work_keys_str_mv | AT inushapanigrahi methylmalonicacidemiawithnovelmutgenemutations AT savitabhunwal methylmalonicacidemiawithnovelmutgenemutations AT harishvarma methylmalonicacidemiawithnovelmutgenemutations AT simranjeetsingh methylmalonicacidemiawithnovelmutgenemutations |