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Summary
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1 (MLASA1)
MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA
600462
OMIM = Online Medalian Inheritance of Men
2598
12q24.33
rare
autosomal recessive
mutation in the pseudouridine synthase-1 gene (PUS1) gene
symptoms
anemia
exercise intolerance
failure to thrive
high arched palate
intellectual disability/intellectual developmental disorder (ID/ IDD)
lactic acidosis
mental retardation
microcephaly (<2 SD for age)
muscle weakness
onset, childhood
pallor
puberty, delayed or missing
small chin or micrognathia
laboratory finding
Ferritin increasedserum
L-Lactic acid increasedplasma
Literature
Jones MA,et al.DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylationAm J Hum Genet902363-3682012
Yoshitoshi-Uebayashi EY,et al.Modelling urea-cycle disorder citrullinemia type 1 with disease-specific iPSCs2. Biochem Biophys Res Commun4863613-69192017