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

Question 1

What is  HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME; HUPRAS?

Accepted Answer

rare

autosomal recessive

mutation in the SARS2 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 613845

Question 3

Which enzymes are involved?

Accepted Answer

Serine--tRNA ligase, mitochondrial

Disease	HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME; HUPRAS
Synonym	HUPRA SYNDROME
OMIM	613845 OMIM = Online Mendelian Inheritance of Men
Orphanet	363694
Protein (UniProt)	Serine--tRNA ligase, mitochondrial
Gene locus	19q13.2
ICD	N15.8
Summary	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