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Conference Paper: 6-pyruvoyl-tetrahydropterin synthase deficiency: the clinical spectrum in 3 Chinese patients

Title6-pyruvoyl-tetrahydropterin synthase deficiency: the clinical spectrum in 3 Chinese patients
Authors
Issue Date2006
PublisherHippokrates Verlag.
Citation
The 10th International Child Neurology Congress (ICNC), Montreal, Canada, 11-16 June 2006. In Neuropediatrics, 2006, v. 37 n. S1, abstract no. TP116 How to Cite?
AbstractOBJECTIVES: To describe the clinical characteristics of 3 patient with 6-pyruvoyltetrahydropterin synthase (PTPS) deficiency. METHODS: The medical notes of these patients were reviewed. The clinical and the biochemical features were described. RESULTS: The first two patients presented at 5 to 6 months old with episodes of prolonged eye staring and stiffening of the 4 limbs which lasted for 30 minutes to 1 hour. These could happen few times per week. They had global delay. The third patient, who was 19 years old, had an initial diagnosis of dyskinetic cerebral palsy, epilepsy and mental retardation. Physical examination revealed a fair skin complexion. There was intermittent dystonia and choreoathetosis involving all the 4 limbs. Blood for amino acid in these patients showed hyperphenylalanaemia. Tetrahydrobiopterin (BH4) loading showed complete normalization of plasma phenylalanine. Urine pterins showed decreased biopterin with normal to high neopterin. Cerebrospinal fluid analysis was low for biogenic amines including 5-hydroxyindoleacetic acid and homovanillic acid. All of them were diagnosed to have PTPS deficiency. 2 of them were confirmed by genetic testing and the result was pending for the third one. The first 2 patients' clinical symptoms and signs responded well to replacement of BH4, l-dopa and 5-hydroxytryptophan. The third patient was about to be started on treatment. CONCLUSION: In places without newborn screening for inborn error of metabolism like Hong Kong, early recognition of this potentially treatable neurological condition is crucial to improve the associated neurological morbidity.
Persistent Identifierhttp://hdl.handle.net/10722/106119
ISSN
2015 Impact Factor: 1.291
2015 SCImago Journal Rankings: 0.550

 

DC FieldValueLanguage
dc.contributor.authorFung, CWen_HK
dc.contributor.authorCheung, PTen_HK
dc.contributor.authorKwan, EYWen_HK
dc.contributor.authorPoon, GWKen_HK
dc.contributor.authorLow, LCKen_HK
dc.contributor.authorWong, VCNen_HK
dc.date.accessioned2010-09-25T23:02:23Z-
dc.date.available2010-09-25T23:02:23Z-
dc.date.issued2006en_HK
dc.identifier.citationThe 10th International Child Neurology Congress (ICNC), Montreal, Canada, 11-16 June 2006. In Neuropediatrics, 2006, v. 37 n. S1, abstract no. TP116en_HK
dc.identifier.issn0174-304X-
dc.identifier.urihttp://hdl.handle.net/10722/106119-
dc.description.abstractOBJECTIVES: To describe the clinical characteristics of 3 patient with 6-pyruvoyltetrahydropterin synthase (PTPS) deficiency. METHODS: The medical notes of these patients were reviewed. The clinical and the biochemical features were described. RESULTS: The first two patients presented at 5 to 6 months old with episodes of prolonged eye staring and stiffening of the 4 limbs which lasted for 30 minutes to 1 hour. These could happen few times per week. They had global delay. The third patient, who was 19 years old, had an initial diagnosis of dyskinetic cerebral palsy, epilepsy and mental retardation. Physical examination revealed a fair skin complexion. There was intermittent dystonia and choreoathetosis involving all the 4 limbs. Blood for amino acid in these patients showed hyperphenylalanaemia. Tetrahydrobiopterin (BH4) loading showed complete normalization of plasma phenylalanine. Urine pterins showed decreased biopterin with normal to high neopterin. Cerebrospinal fluid analysis was low for biogenic amines including 5-hydroxyindoleacetic acid and homovanillic acid. All of them were diagnosed to have PTPS deficiency. 2 of them were confirmed by genetic testing and the result was pending for the third one. The first 2 patients' clinical symptoms and signs responded well to replacement of BH4, l-dopa and 5-hydroxytryptophan. The third patient was about to be started on treatment. CONCLUSION: In places without newborn screening for inborn error of metabolism like Hong Kong, early recognition of this potentially treatable neurological condition is crucial to improve the associated neurological morbidity.-
dc.languageengen_HK
dc.publisherHippokrates Verlag.-
dc.relation.ispartofNeuropediatricsen_HK
dc.title6-pyruvoyl-tetrahydropterin synthase deficiency: the clinical spectrum in 3 Chinese patientsen_HK
dc.typeConference_Paperen_HK
dc.identifier.emailFung, CW: fcw1209m@HKUCC.hku.hken_HK
dc.identifier.emailCheung, PT: ptcheung@hkucc.hku.hken_HK
dc.identifier.emailKwan, EYW: eywkwan@hkucc.hku.hken_HK
dc.identifier.emailPoon, GWK: pwkg@HKUCC.hku.hken_HK
dc.identifier.emailLow, LCK: lcklow@hkucc.hku.hken_HK
dc.identifier.emailWong, VCN: vcnwong@hku.hken_HK
dc.identifier.authorityCheung, PT=rp00351en_HK
dc.identifier.authorityLow, LCK=rp00337en_HK
dc.description.naturelink_to_OA_fulltext-
dc.identifier.doi10.1055/s-2006-945710-
dc.identifier.hkuros117055en_HK
dc.identifier.volume37en_HK
dc.identifier.issuesuppl. 1en_HK
dc.publisher.placeGermany-

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