Visit Metagene.de!
Summary
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA (HLASA)
617021
OMIM = Online Medalian Inheritance of Men
528091
3p21.31
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]
symptoms
anemia
cardiac arrhythmia, dysrhythmia
cardiac involvement, cardiac defects
early death
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)
laboratory finding
EEG abnormalities - urine
L-Lactic acid mmol/lblood
Literature
Wang Z,et al.Melamine-tainted milk product-associated urinary stones in childrenPediatr Int534489-4962011