Clinical, Biochemical, and Molecular Characterization of Two Families with Novel Mutations in the <i>LDHA</i> Gene (GSD XI)
Lactate dehydrogenase (LDH) catalyzes the reversible conversion of L-lactate to pyruvate. LDH-A deficiency is an autosomal recessive disorder (glycogenosis type XI, OMIM#612933) caused by mutations in the <i>LDHA</i> gene. We present two young adult female patients presenting with intole...
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| Format: | Article |
| Language: | English |
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MDPI AG
2022-10-01
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| Series: | Genes |
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| Online Access: | https://www.mdpi.com/2073-4425/13/10/1835 |
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| author | Pablo Serrano-Lorenzo María Rabasa Jesús Esteban Irene Hidalgo Mayoral Cristina Domínguez-González Agustín Blanco-Echevarría Rocío Garrido-Moraga Alejandro Lucia Alberto Blázquez Juan C. Rubio Carmen Palma-Milla Joaquín Arenas Miguel A. Martín |
| author_facet | Pablo Serrano-Lorenzo María Rabasa Jesús Esteban Irene Hidalgo Mayoral Cristina Domínguez-González Agustín Blanco-Echevarría Rocío Garrido-Moraga Alejandro Lucia Alberto Blázquez Juan C. Rubio Carmen Palma-Milla Joaquín Arenas Miguel A. Martín |
| author_sort | Pablo Serrano-Lorenzo |
| collection | DOAJ |
| description | Lactate dehydrogenase (LDH) catalyzes the reversible conversion of L-lactate to pyruvate. LDH-A deficiency is an autosomal recessive disorder (glycogenosis type XI, OMIM#612933) caused by mutations in the <i>LDHA</i> gene. We present two young adult female patients presenting with intolerance to anaerobic exercise, episodes of rhabdomyolysis, and, in one of the patients, psoriasis-like dermatitis. We identified in the <i>LDHA</i> gene a homozygous c.410C>A substitution that predicts a p.Ser137Ter nonsense mutation in Patient One and a compound heterozygous c.410C>A (p.Ser137Ter) and c.750G>A (p.Trp250Ter) nonsense mutation in Patient Two. The pathogenicity of the variants was demonstrated by electrophoretic separation of LDH isoenzymes. Moreover, a flat lactate curve on the forearm exercise test, along with the clinical combination of myopathy and psoriatic-like dermatitis, can also lead to the diagnosis. |
| first_indexed | 2024-03-09T20:10:25Z |
| format | Article |
| id | doaj.art-2ef3abc990bc400aa05bfcf10f77c2d9 |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-09T20:10:25Z |
| publishDate | 2022-10-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-2ef3abc990bc400aa05bfcf10f77c2d92023-11-24T00:16:01ZengMDPI AGGenes2073-44252022-10-011310183510.3390/genes13101835Clinical, Biochemical, and Molecular Characterization of Two Families with Novel Mutations in the <i>LDHA</i> Gene (GSD XI)Pablo Serrano-Lorenzo0María Rabasa1Jesús Esteban2Irene Hidalgo Mayoral3Cristina Domínguez-González4Agustín Blanco-Echevarría5Rocío Garrido-Moraga6Alejandro Lucia7Alberto Blázquez8Juan C. Rubio9Carmen Palma-Milla10Joaquín Arenas11Miguel A. Martín12Mitochondrial and Neuromuscular Disorders Group, Hospital 12 de Octubre Health Research Institute (imas12), 28041 Madrid, SpainNeurology Department, Hospital de Fuenlabrada, 28942 Madrid, SpainNeuromuscular Unit, Department of Neurology, 12 de Octubre University Hospital, 28041 Madrid, SpainMitochondrial and Neuromuscular Disorders Group, Hospital 12 de Octubre Health Research Institute (imas12), 28041 Madrid, SpainMitochondrial and Neuromuscular Disorders Group, Hospital 12 de Octubre Health Research Institute (imas12), 28041 Madrid, SpainDepartment of Internal Medicine, 12 de Octubre University Hospital, 28041 Madrid, SpainMitochondrial and Neuromuscular Disorders Group, Hospital 12 de Octubre Health Research Institute (imas12), 28041 Madrid, SpainMitochondrial and Neuromuscular Disorders Group, Hospital 12 de Octubre Health Research Institute (imas12), 28041 Madrid, SpainMitochondrial and Neuromuscular Disorders Group, Hospital 12 de Octubre Health Research Institute (imas12), 28041 Madrid, SpainMitochondrial and Neuromuscular Disorders Group, Hospital 12 de Octubre Health Research Institute (imas12), 28041 Madrid, SpainDepartment of Genetics, 12 de Octubre University Hospital, 28041 Madrid, SpainMitochondrial and Neuromuscular Disorders Group, Hospital 12 de Octubre Health Research Institute (imas12), 28041 Madrid, SpainMitochondrial and Neuromuscular Disorders Group, Hospital 12 de Octubre Health Research Institute (imas12), 28041 Madrid, SpainLactate dehydrogenase (LDH) catalyzes the reversible conversion of L-lactate to pyruvate. LDH-A deficiency is an autosomal recessive disorder (glycogenosis type XI, OMIM#612933) caused by mutations in the <i>LDHA</i> gene. We present two young adult female patients presenting with intolerance to anaerobic exercise, episodes of rhabdomyolysis, and, in one of the patients, psoriasis-like dermatitis. We identified in the <i>LDHA</i> gene a homozygous c.410C>A substitution that predicts a p.Ser137Ter nonsense mutation in Patient One and a compound heterozygous c.410C>A (p.Ser137Ter) and c.750G>A (p.Trp250Ter) nonsense mutation in Patient Two. The pathogenicity of the variants was demonstrated by electrophoretic separation of LDH isoenzymes. Moreover, a flat lactate curve on the forearm exercise test, along with the clinical combination of myopathy and psoriatic-like dermatitis, can also lead to the diagnosis.https://www.mdpi.com/2073-4425/13/10/1835lactate dehydrogenase (LDH)lactate dehydrogenase A deficiency<i>LDHA</i> geneLDH isoenzymesmyopathy and psoriatic dermatitis |
| spellingShingle | Pablo Serrano-Lorenzo María Rabasa Jesús Esteban Irene Hidalgo Mayoral Cristina Domínguez-González Agustín Blanco-Echevarría Rocío Garrido-Moraga Alejandro Lucia Alberto Blázquez Juan C. Rubio Carmen Palma-Milla Joaquín Arenas Miguel A. Martín Clinical, Biochemical, and Molecular Characterization of Two Families with Novel Mutations in the <i>LDHA</i> Gene (GSD XI) Genes lactate dehydrogenase (LDH) lactate dehydrogenase A deficiency <i>LDHA</i> gene LDH isoenzymes myopathy and psoriatic dermatitis |
| title | Clinical, Biochemical, and Molecular Characterization of Two Families with Novel Mutations in the <i>LDHA</i> Gene (GSD XI) |
| title_full | Clinical, Biochemical, and Molecular Characterization of Two Families with Novel Mutations in the <i>LDHA</i> Gene (GSD XI) |
| title_fullStr | Clinical, Biochemical, and Molecular Characterization of Two Families with Novel Mutations in the <i>LDHA</i> Gene (GSD XI) |
| title_full_unstemmed | Clinical, Biochemical, and Molecular Characterization of Two Families with Novel Mutations in the <i>LDHA</i> Gene (GSD XI) |
| title_short | Clinical, Biochemical, and Molecular Characterization of Two Families with Novel Mutations in the <i>LDHA</i> Gene (GSD XI) |
| title_sort | clinical biochemical and molecular characterization of two families with novel mutations in the i ldha i gene gsd xi |
| topic | lactate dehydrogenase (LDH) lactate dehydrogenase A deficiency <i>LDHA</i> gene LDH isoenzymes myopathy and psoriatic dermatitis |
| url | https://www.mdpi.com/2073-4425/13/10/1835 |
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