myopathy, lactic acidosis, and sideroblastic anemia 2

Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 (MLASA2) is a rare autosomal recessive disorder that affects the mitochondrial respiratory chain. This condition shows marked phenotypic variability, with some patients experiencing severe multisystem disorders from infancy, including cardiomyopathy and

Myopathy, lactic acidosis, and sideroblastic anemia 2 (MLASA2) is a rare autosomal recessive disorder that affects the mitochondrial respiratory chain. The symptoms of MLASA2 can vary in severity and age of onset, but common signs and symptoms include:

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Diagnostic Tests for Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 (MLASA2)

Myopathy, lactic acidosis, and sideroblastic anemia-2 (MLASA2) is a rare autosomal recessive disorder of the mitochondrial respiratory chain. Diagnosing MLASA2 can be challenging due to its rarity and variability in presentation. However, several diagnostic tests are available to help confirm the diagnosis.

• Targeted mutation analysis: This test involves analyzing specific genes associated with MLASA2, such as the YARS2 gene. A novel homozygous missense mutation (c.597G>A) in the YARS2 gene has been identified as a cause of severe myopathy, lactic acidosis, and sideroblastic anemia 2 [1].
• Mutation scanning/screening and sequence analysis: This test can detect mutations in the YARS2 gene, which is associated with MLASA2. A blood test can be used to detect these mutations [6].
• NGS Genetic Test: Next-generation sequencing (NGS) genetic testing can also be used to diagnose MLASA2 by analyzing the entire coding region of the YARS2 gene [10].
• Clinical Molecular Genetics test: This test involves sequence analysis of the entire coding region, next-generation (NGS)/massively parallel sequencing (MPS), and is offered by Intergen Genetic Diagnosis and Research Centre [10].

Additional Diagnostic Tests

Other diagnostic tests that may be used to diagnose MLASA2 include:

• Muscle biopsy: A muscle biopsy may be necessary to confirm the diagnosis of MLASA2, especially if there are concerns about mitochondrial myopathy [5].
• Blood test: A blood test can detect mutations in the YARS2 gene and other genes associated with mitochondrial translation [11].

References

[1] A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia 2. Journal of human genetics. 2014 doi: 10.1038/jhg.2013.143.

[5] Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterised by progressive exercise intolerance, lactic acidosis, and sideroblastic anemia [5].

[6] A blood test can detect the presence of mutations in the YARS2 gene [6].

[10] Clinical resource with information about Myopathy lactic acidosis and sideroblastic anemia and its clinical features, available genetic tests from US and labs around the world and links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, clinicaltrials.gov, PharmGKB [14].

[11] Testing of patients with MM includes both diagnostic testing as well as disease monitoring. causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome. Am J Hum Genet, 87 (1) [15].

**Current Drug Treatments for Myopathy, Lactic Acidosis, and Sider

Based on the search results, it appears that myopathy, lactic acidosis, and sideroblastic anemia (MLASA) is a rare condition characterized by progressive exercise intolerance, onset of sideroblastic anemia around adolescence, lactic acidaemia, and mitochondrial dysfunction.

The differential diagnosis for MLASA includes:

• Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS): This is a distinct condition that also presents with mitochondrial dysfunction, but it typically involves neurological symptoms such as seizures and stroke-like episodes [9].
• Pearson marrow-pancreas syndrome: This is another rare condition characterized by sideroblastic anemia, lactic acidosis, and pancreatic dysfunction. It often presents in infancy or early childhood [6].
• X-linked sideroblastic anemia (XLSA): This is a genetic disorder that causes sideroblastic anemia due to mutations in the ALAS2 gene. While it can present with similar symptoms to MLASA, it typically involves hypochromic microcytic anemia and is less severe [11].
• Mitochondrial myopathy: This is a broad category of conditions characterized by mitochondrial dysfunction, which can include MLASA as well