HUPRA syndrome is a rare syndrome that was first described in 2010 in two infants of
Palestinian
Palestinians ( ar, الفلسطينيون, ; he, פָלַסְטִינִים, ) or Palestinian people ( ar, الشعب الفلسطيني, label=none, ), also referred to as Palestinian Arabs ( ar, الفلسطينيين العرب, label=non ...
origin from the same village in the Jerusalem area.
One of the two infants' parents were consanguinity, related.
It was later described in a third infant from the same village, whose parents were not related.
The acronym stands for Hyperuricemia, Hyperuricemia, Pulmonary hypertension, Pulmonary hypertension, Renal failure, Renal failure in infancy and Alkalosis, Alkalosis. And it's due to mutations in the mitochondrial SARS (gene), SARS enzyme.
It is an autosomal recessive disease, that has a prevalence of less than one in a million.
One in fifteen of the village's inhabitants were found to carry the genetic mutation.
Presentation
Those affected were born prematurely, and suffered from feeding disorder, feeding difficulties and developmental delays.
They presented with progressive kidney disease and primary pulmonary hypertension, and ultimately died.
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).
Diagnosis
Treatment
Currently there is no curative treatment.
See also
* Mitochondrial disease
* Mitochondrial DNA
* SARS (gene)
References
External links
{{Medicine, state=collapsed
Mitochondrial diseases
Rare syndromes