Nephrocalcinosis in genetically proved dopa-responsive dystonia due to sepiapterin reductase deficiency in a Libyan Girl

Abstract

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Dopa-responsive dystonia: Guanosine triphosphate cyclohydrolase 1, tyrosine hydroxylase, and sepiapterin reductase

“…Etarhuni et al reported the case of a female with DRD secondary to SPR deficiency who also presented nephrocalcinosis. [1] This unique characteristic was not already reported in other individuals affected by this pathology.…”

“…Table 1 is a resume of the main characteristics of the DRD due to SPR deficiency cases from the Middle Eastern and North Africa region. [1,4,5] It is interesting to observe that the majority of the patients manifested symptoms during infancy and early childhood. The main clinical presentation was dystonia in the lower limbs, in which the majority had tiptoe walking.…”

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“…[12] A couple of interesting case reports on nephrocalcinosis in genetically proved dopa-responsive dystonia due to sepiapterin reductase deficiency in a Libyan girl and a direct gunshot wound to the testicular artery are presented. [13,14] The contents of the "introduction to clinical research training" by Harvard Medical School held usually in Dubai but this year it was conducted virtually and are highlighted by Mustafa et al [15] As we pay farewell to 2020, we hope that 2021 will be better all the year round.…”