HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA; (HLASA)

Question 1

What is  HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA; (HLASA)?

Accepted Answer

very rare

autosomal recessive

mutation in the LARS2 gene

Sequence variants in LARS2 have previously been associated with Perrault syndrome, OMIM 615300 [Riley LG 2016]

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 617021

Question 3

Which enzymes are involved?

Accepted Answer

Probable leucine--tRNA ligase, mitochondrial

Disease	HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA; (HLASA)
OMIM	617021 OMIM = Online Mendelian Inheritance of Men
Orphanet	528091
Protein (UniProt)	Probable leucine--tRNA ligase, mitochondrial
Gene locus	3p21.31
ICD
Summary	very rare autosomal recessive mutation in the LARS2 gene Sequence variants in LARS2 have previously been associated with Perrault syndrome, OMIM 615300 [Riley LG 2016]
Laboratory findings	L-Lactic acid inc (blood)
Symptoms	anemia cardiac arrhythmia, dysrhythmia cardiac involvement, cardiac defects early death EEG abnormalities [-] hydrops fetalis lactic acidosis liver involvement or dysfunction oligohydramnion (maternal) onset, neonatal pulmonary hemorrhage (bleeding) respiratory insufficiency seizures sideroblastic anemia small for gestational age (SGA), intrauterine growth retardation (IUGR)