MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1 (MLASA1)

Question 1

What is  MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1 (MLASA1)?

Accepted Answer

rare
autosomal recessive
mutation in the pseudouridine synthase-1 gene (PUS1) gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Mitochondriale Myopathie und sideroachrestische Anämie

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 600462

Question 4

Which enzymes are involved?

Accepted Answer

tRNA pseudouridine synthase A

Disease	MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1 (MLASA1)
Synonym	MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA
OMIM	600462 OMIM = Online Mendelian Inheritance of Men
Orphanet	2598
Protein (UniProt)	tRNA pseudouridine synthase A
Gene locus	12q24.33
ICD	G71.3
Summary	rare autosomal recessive mutation in the pseudouridine synthase-1 gene (PUS1) gene
Laboratory findings	Ferritin inc (serum) L-Lactic acid inc (plasma)
Symptoms	anemia exercise intolerance failure to thrive high arched palate intellectual disability/intellectual developmental disorder lactic acidosis mental retardation microcephaly (<2 SD for age) muscle weakness myopathy onset, childhood pallor puberty, delayed or missing sideroblastic anemia small chin or micrognathia