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Summary

Disease	MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1 (MLASA1)
Synonym	MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA
OMIM	600462 OMIM = Online Medalian Inheritance of Men
Orphanet	2598
Gene locus	12q24.33
Summary	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

Metabolite	min	max	Norm. min	Norm. max	unit	specimen	agegroup
Ferritin					increased	serum
Lactic acid	3.00				mmol/l	plasma

Literature

Author	Co-Author	Title	society	book	volume	number	pages	Year
Jones MA,	et al.	DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation	Am J Hum Genet		90	2	363-368	2012
Yoshitoshi-Uebayashi EY,	et al.	Modelling urea-cycle disorder citrullinemia type 1 with disease-specific iPSCs	2. Biochem Biophys Res Commun		486	3	613-6919	2017