Tetrahydrobiopterin Deficiency and an International Database of Patients View Full Text


Ontology type: schema:Chapter     


Chapter Info

DATE

1993

AUTHORS

N. Blau , Jean-Louis Dhondt

ABSTRACT

Tetrahydrobiopterin (BH4) deficiency comprises a group of rare autosomal recessively inherited diseases characterized by progressive neurological symptoms unresponsive to treatment with low-phenylalanine diet1. 6-Pyruvoyl tetrahydropterin synthase (PTPS) deficiency, the most common form of BH4 deficiency, occurs in various clinical forms which are sometimes hard to distinguish. This complicates the screening of newborns, prenatal diagnosis, the determination of heterozygote carriers, and treatment of patients. Besides severe, atypical (peripheral and/or partial), and transient forms there might be other variants only marginally characterized2. In dihydropteridine reductase (DHPR) deficiency, the second most common form of BH4 deficiency, various point mutations have been observed. Recendy a new form of hyperphenylalaninemia, primapterinuria, presumably due to deficiency of the phenylalanine-4a-hydroxylase stimulating protein pterin-4a-carbinolamine dehydratase (PCD) was described3. PCD deficiency and the GTP cyclohydrolase I (GTPCH) deficiency are less frequent forms of BH4 deficiency. The metabolic pathway of BH4 as well as the known enzyme defects leading to hyperphenylalaninemia are shown in Figure 1. More... »

PAGES

255-61

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/978-1-4615-2960-6_52

DOI

http://dx.doi.org/10.1007/978-1-4615-2960-6_52

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1000287487

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/8304121


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