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Summary
HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME HUPRAS
HUPRA SYNDROME
613845
OMIM = Online Medalian Inheritance of Men
363694
19q13.2
rare
autosomal recessive
mutation in the SARS2 gene
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
laboratory finding
Creatine +€mol/lplasma
Uric acid +€mol/lplasma
Sodium mmol/lserum
Manganese mmol/lserum
D-Lactic acid mmol/lcerebrospinal fluid
D-Lactic acid mmol/lserum
Literature
Wang X,et al.Hypervalinemia and hyperleucine-isoleucinemia caused by mutations in the branched-chain-amino-acid aminotransferase geneJ Inherit Metab Dis385855-8612015
Jeune, M,et al.Hyperleucinisoleucinemia due to partial transamination defect associated with type 2 hyperprolinemia. Familial case of double aminoacidopathyAnn Pediatr (Paris)172349-3631970