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Summary
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 (MLASA2)
613561
OMIM = Online Medalian Inheritance of Men
2598
12p11.21
vera rare
autosomal recessive
mutation in the YARS2 gene

symptoms
anemia
cardiac involvement, cardiac defects
cardiomyopathy
cardiomyopathy, hypertrophic
dysphagia
exercise intolerance
failure to thrive
growth retardation, poor growth
hepatomegaly (large liver)
lactic acidosis
liver involvement or dysfunction
muscle atrophy
muscle weakness
nystagmus
onset, childhood
onset, infancy
ptosis (drooping eyelid)
respiratory insufficiency
sideroblastic anemia
strabismus
laboratory finding
Hemoglobine g/dlblood
L-Lactic acid mmol/lblood
Literature
Wheeler PGet al.SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset featuresAm J Med Genet A170123165-31712016
Baker PR 2nd,et al.Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5Brain1372366-3792014
Mayr JA,et al.Lipoic acid biosynthesis defectsJ Inherit Metab Dis374553-5632014
Soreze Y,,et al.Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenaseOrphanet J Rare Dis801922013
Tort F,et al.Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexesHum Mol Genet2371907-19152014