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HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME; HUPRAS

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