Malignant Phenylketonuria (PKU) Due to Dihydropteridine Reductase (DHPR) Deficiency

Hdl Handle:
http://hdl.handle.net/10147/596696
Title:
Malignant Phenylketonuria (PKU) Due to Dihydropteridine Reductase (DHPR) Deficiency
Authors:
Ventzke, A; Hoffmann, J; Crushell, E; Monavari, A; Mayne, PD; Knerr, I
Publisher:
Irish Medical Journal
Journal:
Irish Medical Journal
Issue Date:
Dec-2015
URI:
http://hdl.handle.net/10147/596696
Abstract:
DHPR deficiency is a rare autosomal recessively inherited metabolic disorder of tetrahydrobiopterin (BH4) regeneration. Clinical symptoms may comprise microcephaly, developmental delay, ataxia and seizures. BH4 is the cofactor for the enzyme phenylalanine (Phe)hydroxylase (PAH), and for tryptophan and tyrosine hydroxylases, both of which are essential for serotonin and dopamine biosynthesis. We present four patients in two families who are being treated at the National Centre for Inherited Metabolic Disorders (NCIMD). All are members of the Irish Traveller population. We have identified a homozygous mutation, c.353C>T, in the DHPR (QDPR) gene which, to the best of our knowledge, has not been previously described. The mainstay of treatment is a life-long Phe-restricted diet together with supplementation of L-dopa and 5-hydroxy tryptophan (5-HT) and folinic acid. In Ireland, there is neurological comorbidity in our adult DHPR patients, although the overall outcome is satisfactory and one affected female has three healthy children.
Item Type:
Article
Language:
en
Keywords:
METABOLIC DISORDERS; INFANT

Full metadata record

DC FieldValue Language
dc.contributor.authorVentzke, Aen
dc.contributor.authorHoffmann, Jen
dc.contributor.authorCrushell, Een
dc.contributor.authorMonavari, Aen
dc.contributor.authorMayne, PDen
dc.contributor.authorKnerr, Ien
dc.date.accessioned2016-02-18T16:28:37Zen
dc.date.available2016-02-18T16:28:37Zen
dc.date.issued2015-12en
dc.identifier.urihttp://hdl.handle.net/10147/596696en
dc.description.abstractDHPR deficiency is a rare autosomal recessively inherited metabolic disorder of tetrahydrobiopterin (BH4) regeneration. Clinical symptoms may comprise microcephaly, developmental delay, ataxia and seizures. BH4 is the cofactor for the enzyme phenylalanine (Phe)hydroxylase (PAH), and for tryptophan and tyrosine hydroxylases, both of which are essential for serotonin and dopamine biosynthesis. We present four patients in two families who are being treated at the National Centre for Inherited Metabolic Disorders (NCIMD). All are members of the Irish Traveller population. We have identified a homozygous mutation, c.353C>T, in the DHPR (QDPR) gene which, to the best of our knowledge, has not been previously described. The mainstay of treatment is a life-long Phe-restricted diet together with supplementation of L-dopa and 5-hydroxy tryptophan (5-HT) and folinic acid. In Ireland, there is neurological comorbidity in our adult DHPR patients, although the overall outcome is satisfactory and one affected female has three healthy children.en
dc.language.isoenen
dc.publisherIrish Medical Journalen
dc.subjectMETABOLIC DISORDERSen
dc.subjectINFANTen
dc.titleMalignant Phenylketonuria (PKU) Due to Dihydropteridine Reductase (DHPR) Deficiencyen
dc.typeArticleen
dc.identifier.journalIrish Medical Journalen
dc.description.fundingNo fundingen
dc.description.provinceLeinsteren
dc.description.peer-reviewpeer-reviewen
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