Atypical cases of phenylketonuria |
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Authors: | J -L Dhondt J -P Farriaux |
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Institution: | (1) Laboratoire de Biochimie, Faculté Libre de Médecine, 56 rue du Port, F-59046 Lille Cédex, France;(2) Service de Génétique et Maladies Héréditaires de Métabolisme, Lille, France |
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Abstract: | Conclusion Neonatal HPA can be caused by deficiency of PAH or of its cofactor. At present, conventional methods are not able to delineate the molecular basis of the mutations in PKU patients. DNA analysis might in future visualize the different genotypes, but might not solve the problem of therapeutic decision.All infants with HPA should be screened for THB deficiency. Diagnostic tools are now available for the recognition of these variants among hyperphenylalaninemic infants. The most important question-which infants can achieve normal development if treated early-remains tobe answered. Efforts have to be directed toward better characterization of individual residual capacity to synthesize THB and toward and definition of protocols for the follow-up of neurotransmitter replacement therapy.Abbreviations PKU
phenylketonuria
- HPA
hyperphenylalaninemia
- PAH
phenylalanine hydroxylase
- DHPR
dihydropteridine reductase
- BS
biopterin synthetase
- THB
tetrahydrobiopterin
- GTP
guanosine triphosphate
- GTP-ch
GTP-cyclohydrolase
- N/B ratio
neopterin/biopterin ratio |
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Keywords: | Hyperphenylalaninemia Phenylketonuria Cofactor deficiency Variants |
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