HUPRA syndrome

HUPRA syndrome is a rare syndrome that was first described in 2010 in two infants of Palestinian origin from the same village in the Jerusalem area.^[1] The parents of one of the two infants were related.^[1] It was later described in a third infant from the same village, whose parents were not related.^[1]

HUPRA syndrome
Other names	Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
HUPRA syndrome is inherited via autosomal recessive manner
Frequency	Less than one in a million

The acronym stands for Hyperuricemia, Pulmonary hypertension, Renal failure in infancy and Alkalosis. The condition is caused by mutations in the mitochondrial SARS enzyme.^[1] It is an autosomal recessive disease with a prevalence of less than one in a million.^[2] One in fifteen of the village's inhabitants were found to carry the genetic mutation.^[1]

Presentation

Those affected were born prematurely, and suffered from feeding difficulties and developmental delays.^[1] They presented with progressive kidney disease and primary pulmonary hypertension, and ultimately died.^[1]

Genetics

The cause of this condition is a mutation in the SARS2 gene (seryl-tRNA synthetase enzyme) which has to do with protein translation. Furthermore, the HUPRA syndrome is autosomal recessive in its inheritance pattern. It is located on chromosome 19 (19q13.2).^[3][4]

Diagnosis

Treatment

Currently there is no curative treatment.^{[citation needed]}

See also

• Mitochondrial disease
• Mitochondrial DNA
• SARS (gene)