A patient with congenital hyperlactataemia and Leigh syndrome: an uncommon mitochondrial variant
| Autor: | Kam-Ming Au, K Y Chan, H L Chow, Eric Kin-Cheong Yau, Chloe M Mak, Albert Y W Chan, Louis C. K. Ma, CK Ching, Y P Yuen |
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| Rok vydání: | 2013 |
| Předmět: |
Mitochondrial DNA
Pathology medicine.medical_specialty Lymphocyte Respiratory chain Mitochondrion medicine.disease_cause DNA Mitochondrial Seizures Pyruvic Acid medicine Humans Lactic Acid Leigh disease Genetic testing Mutation medicine.diagnostic_test business.industry Infant General Medicine Sequence Analysis DNA medicine.disease Heteroplasmy medicine.anatomical_structure Acidosis Lactic Female Leigh Disease business |
| Zdroj: | Hong Kong medical journal = Xianggang yi xue za zhi. 19(4) |
| ISSN: | 1024-2708 |
| Popis: | We report an uncommon mitochondrial variant in a baby girl with congenital hyperlactataemia and Leigh syndrome. The patient presented with a single episode of generalised clonic convulsion at day 19, and was found to have isolated and persistent hyperlactataemia ranging from 3.34 to 9.26 mmol/L. She had elevated serum lactate-to-pyruvate ratios of up to 35 and high plasma alanine concentration, indicative of a respiratory chain defect. At the age of 8 months, she developed evolving neurological and imaging features compatible with Leigh syndrome. Genetic testing for common mitochondrial DNA mutations, large mitochondrial DNA deletions, and selected nuclear genes was negative. Further analysis of lymphocyte mitochondrial DNA by sequencing revealed an uncommon heteroplasmic variant, NC_012920.1(MT-ND5):m.13094T>C (p.Val253Ala), which was previously shown to reduce complex I activity. In patients in whom there was a high suspicion of mitochondrial disorder, entire mitochondrial DNA analysis may be warranted if initial screening of common mitochondrial DNA mutations is negative. |
| Databáze: | OpenAIRE |
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