Linked Life Data

11388593

Source:http://linkedlifedata.com/resource/pubmed/id/11388593

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2001-6-4
pubmed:abstractText
The outcome of 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency, the most common form of tetrahydrobiopterin (BH4) deficiency, depends on factors such as severity of the disease, type of mutation, time of diagnosis, and mode of treatment. We investigated five patients from four different families, four of them presenting with the severe form of PTPS deficiency and one with the mild peripheral form. In this study, missense (L26F, T67M, P87L, V124L, D136G, D136V) and nonsense (R15-16ins) mutations were detected by reverse transcriptase polymerase chain reaction and sequence analysis. Two patients with the severe form were compound heterozygotes (T67M/P87L and D136G/R15-16ins), two siblings were homozygous for the D136V mutation, and in the patient with the mild form, heterozygous L26F/V124L mutations were present. Two patients are on combined therapy with L-dopa/carbidopa/5-hydroxytryptophan plus BH4, the siblings are on monotherapy with BH4, and the patient with the mild form is now off treatment, presenting with normal plasma phenylalanine levels. CONCLUSION: Long-term follow-up shows that the outcome of 6-pyruvoyl-tetrahydropterin synthase deficiency benefits from treatment started in the first months of life and that the phenotype may change with age. Additionally, depending on the type of mutations, prenatal damage to the fetus may multiply the clinical abnormalities and thus worsen the prognosis of the disease. In patients initially diagnosed with the mild peripheral form of the disease, therapy with tetrahydrobiopterin should be stopped after some time to test whether hyperphenylalaninaemia was only a transient condition.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
0340-6199
pubmed:author
pubmed:issnType
Print
pubmed:volume
160
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
267-76
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed-meshheading:11388593-Adolescent, pubmed-meshheading:11388593-Adult, pubmed-meshheading:11388593-Antioxidants, pubmed-meshheading:11388593-Biopterin, pubmed-meshheading:11388593-Carbidopa, pubmed-meshheading:11388593-Child, pubmed-meshheading:11388593-Child, Preschool, pubmed-meshheading:11388593-DNA Mutational Analysis, pubmed-meshheading:11388593-Dopamine Agents, pubmed-meshheading:11388593-Female, pubmed-meshheading:11388593-Follow-Up Studies, pubmed-meshheading:11388593-Genotype, pubmed-meshheading:11388593-Heterozygote, pubmed-meshheading:11388593-Homozygote, pubmed-meshheading:11388593-Humans, pubmed-meshheading:11388593-Infant, pubmed-meshheading:11388593-Infant, Newborn, pubmed-meshheading:11388593-Levodopa, pubmed-meshheading:11388593-Male, pubmed-meshheading:11388593-Mutation, pubmed-meshheading:11388593-Phenotype, pubmed-meshheading:11388593-Phenylketonurias, pubmed-meshheading:11388593-Phosphorus-Oxygen Lyases, pubmed-meshheading:11388593-Pterins, pubmed-meshheading:11388593-Reverse Transcriptase Polymerase Chain Reaction, pubmed-meshheading:11388593-Time Factors
pubmed:year
2001
pubmed:articleTitle
Molecular analysis and long-term follow-up of patients with different forms of 6-pyruvoyl-tetrahydropterin synthase deficiency.
pubmed:affiliation
Division of Clinical Chemistry and Biochemistry, University Children's Hospital, Zurich, Switzerland.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't