{"id":22282,"date":"2022-08-31T08:09:43","date_gmt":"2022-08-31T08:09:43","guid":{"rendered":"https:\/\/catweb.ro\/babydetect\/?p=22282"},"modified":"2024-02-02T10:50:59","modified_gmt":"2024-02-02T10:50:59","slug":"sepiapterin-reductase-deficiency-srd-spr-gene","status":"publish","type":"post","link":"https:\/\/www.babydetect.be\/en\/sepiapterin-reductase-deficiency-srd-spr-gene\/","title":{"rendered":"Sepiapterin reductase deficiency (SRD)"},"content":{"rendered":"

SPR gene<\/strong><\/p>\n

Also known as<\/u><\/em>: Dystonia, dopa-responsive, due to sepiapterin reductase deficiency; Dopa-Responsive Hypersomnia, DYT-SPR, SPR deficiency<\/em><\/p>\n

– OMIM#612716 <\/strong>https:\/\/omim.org\/entry\/612716<\/p>\n

1. The Disease:<\/h4>\n

The phenotypic spectrum of sepiapterin reductase deficiency (SRD), which ranges from significant motor and cognitive deficits to only minimal findings, has not been completely understood.<\/p>\n

2. The symptoms:<\/h4>\n

Clinical features in many affected individuals include motor and speech delay, axial hypotonia, dystonia, weakness, and oculogyric crises; symptoms show diurnal fluctuation and sleep benefit. Lack of early signs or symptoms does not exclude the diagnosis. <\/em><\/p>\n

Other common features include parkinsonian signs (tremor, bradykinesia, masked facies, rigidity), limb hypertonia, hyperreflexia, intellectual disability, psychiatric and\/or behavioural abnormalities, autonomic dysfunction, and sleep disturbances (hypersomnolence, difficulty initiating or maintaining sleep, and drowsiness).<\/p>\n

Most affected individuals have nonspecific features in infancy including developmental delays and axial hypotonia; other features develop over time.<\/p>\n

3. Actions to take in case of early diagnosis: \u00a0<\/em><\/h4>\n

Babies with a positive genetic test (having biallelic pathogenic variants in the SPR <\/em>gene) should be referred immediately to a paediatric neurologist for clinical evaluation.<\/p>\n

Biochemical correlation is recommended with CSF dosage of neurotransmitters and pterins. It is expected to see low levels of 5-hydroxyindoleacetic (5-HIAA) and homovanillic acid (HVA), and elevated total biopterin and dihydrobiopterin (BH2).<\/p>\n

SRD is a lifelong disease requiring lifetime management and regular follow-up with a Paediatric Neurology Center Management is provided by multidisciplinary team.<\/p>\n

L-dopa in combination with carbidopa (or another peripheral decarboxylase inhibitor) is the main therapy used to correct CNS dopamine deficiency.<\/p>\n

Treatment should be initiated as early as possible to avoid irreversible neurological damage.<\/p>\n

The dosage of L-dopa can range from 0.1 to 16 mg\/kg\/day. Transient dyskinesias frequently occur initially because of treatment but are usually resolved by decreasing the dosage. In patients with insufficient improvement of symptoms under L-dopa therapy, 5-hydroxytrytophan (5-HTP) at a dosage of 0.14 to 6 mg\/kg\/day should be given with carbidopa (to reduce side effects), since combination therapy may result in further improvements of motor and sleep symptoms.<\/p>\n

These medications most consistently correct motor abnormalities; however, in some individuals cognitive manifestations remain more refractory.<\/p>\n

Agents to avoid<\/u><\/em>: although adverse events with specific agents have not been reported in patients with SRD, the following should be avoided on a theoretic basis: sulfa drugs, methotrexate, nitrous oxide, neuroleptics, and other dopamine antagonists (e.g., metoclopramide).<\/p>\n

Genetic counselling should be offered to at-risk family members.<\/p>\n

4. For more information:<\/h4>\n

Orphanet:<\/strong> https:\/\/www.orpha.net\/consor\/cgi-bin\/Disease_Search.php?lng=EN&data_id=10965&Disease_Disease_Search_diseaseGroup=SEPIAPTERIN-REDUCTASE-DEFICIENCY&Disease_Disease_Search_diseaseType=Pat&Disease(s)\/group%20of%20diseases=Dopa-responsive-dystonia-due-to-sepiapterin-reductase-deficiency&title=Dopa-responsive%20dystonia%20due%20to%20sepiapterin%20reductase%20deficiency&search=Disease_Search_Simple<\/a><\/p>\n

Biblio:<\/strong> https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK304122\/<\/p>\n","protected":false},"excerpt":{"rendered":"

SPR gene Also known as: Dystonia, dopa-responsive, due to sepiapterin reductase deficiency; Dopa-Responsive Hypersomnia, DYT-SPR, SPR deficiency – OMIM#612716 https:\/\/omim.org\/entry\/612716 1. The Disease: The phenotypic spectrum of sepiapterin reductase deficiency (SRD), which ranges from significant motor and cognitive deficits to only minimal findings, has not been completely understood. 2. The symptoms: Clinical features in many…<\/p>\n","protected":false},"author":1,"featured_media":22267,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[42],"tags":[],"_links":{"self":[{"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/posts\/22282"}],"collection":[{"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/comments?post=22282"}],"version-history":[{"count":1,"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/posts\/22282\/revisions"}],"predecessor-version":[{"id":23888,"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/posts\/22282\/revisions\/23888"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/media\/22267"}],"wp:attachment":[{"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/media?parent=22282"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/categories?post=22282"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/tags?post=22282"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}