HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME; HUPRAS | |
HUPRA SYNDROME | |
613845
OMIM = Online Mendelian Inheritance of Men | |
363694 | |
Serine--tRNA ligase, mitochondrial | |
19q13.2 |
|
N15.8 | |
rare autosomal recessive mutation in the SARS2 gene | |
Laboratory findings | Creatine inc (plasma) D-Lactic acid inc (cerebrospinal fluid) D-Lactic acid inc (serum) Manganese dec (serum) Sodium dec (serum) Uric acid inc (plasma) |
Symptoms | anemia developmental delay diabetes mellitus early death failure to thrive feeding difficulties, poor feeding hypochloremic alkalosis hypotonia onset, infancy pancytopenia polyuria prematurity, premature delivery proteinuria pulmonary hypertension renal failure, acute/chronic respiratory insufficiency thrombopenia, thrombocytopenia |