MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 (MLASA2)

Question 1

What is  MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 (MLASA2)?

Accepted Answer

vera rare

autosomal recessive

mutation in the YARS2 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 613561

Question 3

Which enzymes are involved?

Accepted Answer

Tyrosine--tRNA ligase, mitochondrial

Disease	MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 (MLASA2)
OMIM	613561 OMIM = Online Mendelian Inheritance of Men
Orphanet	2598
Protein (UniProt)	Tyrosine--tRNA ligase, mitochondrial
Gene locus	12p11.21
ICD
Summary	vera rare autosomal recessive mutation in the YARS2 gene
Laboratory findings	Hemoglobine dec (blood) L-Lactic acid normal/inc (blood)
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