MLASA
| Classification according to ICD-10 | |
|---|---|
| G71.3 | Mitochondrial myopathy, not elsewhere classified |
| ICD-10 online (WHO version 2019) | |
MLASA , acronym for M yopathie , L aktat a zidose and S ideroblastische A Naemie , is a very rare congenital disease with the eponymous main features and is one of the metabolic myopathies .
Synonyms are: mitochondrial myopathy and sideroblastic anemia; MSA; Myopathy - lactic acidosis - sideroblastic anemia
The first description comes from 1974 by the English doctors JM Rawles and RO Weller.
distribution
The frequency is given as less than 1 in 1,000,000, so far about 10 people have been reported. Inheritance is autosomal - recessive .
root cause
Depending on the underlying mutation , the following types can be distinguished:
- MLASA1 , mutations in PUS1 - gene on chromosome 12 locus q24.33
- MLASA2 , mutations in the YARS2 gene on chromosome 12 locus p11.21
- MLASA3 , mutations in the mitochondrially encoded ATP6 gene
The deficient pseudouridylation of the mitochondrial tRNA can lead to disturbances of the oxidative phosphorylation .
Clinical manifestations
Clinical criteria are:
- Onset of illness in childhood
- Progressive weakness of movement due to mitochondrial myopathy
- sideroblastic anemia in adolescence
- Lactic acidosis
diagnosis
In the muscle biopsy, evidence of reduced activities of the respiratory chain complexes 1 and 4 and electron-optical paracrystalline inclusions.
literature
- Ç. S. Kasapkara, L. Tümer, N. Zanetti, F. Ezgü, E. Lamantea, M. Zeviani: A Myopathy, Lactic Acidosis, Sideroblastic Anemia (MLASA) Case Due to a Novel PUS1 Mutation. In: Turkish journal of haematology: official journal of Turkish Society of Haematology. Volume 34, number 4, 12 2017, pp. 376–377, doi: 10.4274 / tjh.2017.0231 , PMID 28832011 , PMC 5774363 (free full text).
- R. Shahni, Y. Wedatilake, MA Cleary, KJ Lindley, KR Sibson, S. Rahman: A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations. In: American journal of medical genetics. Part A. Volume 161A, number 9, September 2013, pp. 2334-2338, doi: 10.1002 / ajmg.a.36065 , PMID 23918765 , PMC 3884767 (free full text).
- KA Casas, N. Fischel-Ghodsian: Mitochondrial myopathy and sideroblastic anemia. In: American journal of medical genetics. Part A. Volume 125A, number 2, March 2004, pp. 201-204, doi: 10.1002 / ajmg.a.20368 , PMID 14981724 .
Individual evidence
- ↑ a b c d e Mitochondrial myopathy and sideroblastic anemia. In: Orphanet (Rare Disease Database).
- ↑ JM Rawles, RO Weller: Familial association of metabolic myopathy, lactic acidosis and sideroblastic anemia. In: The American journal of medicine. Volume 56, Number 6, June 1974, pp. 891-897, PMID 4364695 .
- ↑ Myopathy, lactic acidosis, and sideroblastic anemia 1. In: Online Mendelian Inheritance in Man . (English)
- ↑ Myopathy, lactic acidosis, and sideroblastic anemia 2. In: Online Mendelian Inheritance in Man . (English)
- ↑ MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3; MLASA3. In: Online Mendelian Inheritance in Man . (English)
- ↑ LC Burrage, S. Tang, J. Wang, TR Donti, M. Walkiewicz, JM Luchak, LC Chen, ES Schmitt, Z. Niu, R. Erana, JV Hunter, BH Graham, LJ Wong, F. Scaglia: Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G> A) in the mitochondrial encoded ATP6 gene. In: Molecular Genetics and Metabolism. Volume 113, number 3, November 2014, pp. 207–212, doi: 10.1016 / j.ymgme.2014.06.004 , PMID 25037980 , PMC 4253070 (free full text).
