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Preferred Name

tetrahydrobiopterin deficiency
Synonyms

BH4 deficiency
Definitions

BH4 (tetrahydrobiopterin) deficiency is a congenital metabolic disorder characterized by disruptions in BH4 biosythesis and regeneration cycle due to the mutated recessive alleles coding for one of the enzymes involved in BH4 biosythesis (GTP cyclohydrolase and 6-pyruvol-tetrahydrobiopterin-syntase), and/or mutated recessive alleles coding for enzymes involved BH4 regeneration (dihydropteridine reductase and pterin carbinolamine-4alpha-dehydratase). BH4 deficiencies have autosomal recessive inheritance pattern in both compound heterozygous (genetic compound) state and homozygous state. Definition source: Blau, N., Burton, B. K., Thoeny, B., van Sprosen F., Waisbren, S. (2010) Phenylketonuria and BH4 deficiencies. UNI-MED Verlag AGm D-283232 Bremen, International Medical Publishers (London, Boston), pp.65-67. Definition source: Physician's guide to the laboratory diagnosis of metabolic diseases. (2004) N. Blau, Duran, M. Blaskovics, M.E., Gibson, K.M. Eds. Springer Verlag, pp. 89.
ID

http://onstr.googlecode.com/svn/tags/currentRelease/2014-09-03/ONSTR.owl#ONSTR_5173920
comment

Definition source: Blau, N., Burton, B. K., Thoeny, B., van Sprosen F., Waisbren, S. (2010) Phenylketonuria and BH4 deficiencies. UNI-MED Verlag AGm D-283232 Bremen, International Medical Publishers (London, Boston), pp.65-67.

Definition source: Physician's guide to the laboratory diagnosis of metabolic diseases. (2004) N. Blau, Duran, M. Blaskovics, M.E., Gibson, K.M. Eds. Springer Verlag, pp. 89.
altLabel

BH4 deficiency
definition

BH4 (tetrahydrobiopterin) deficiency is a congenital metabolic disorder characterized by disruptions in BH4 biosythesis and regeneration cycle due to the mutated recessive alleles coding for one of the enzymes involved in BH4 biosythesis (GTP cyclohydrolase and 6-pyruvol-tetrahydrobiopterin-syntase), and/or mutated recessive alleles coding for enzymes involved BH4 regeneration (dihydropteridine reductase and pterin carbinolamine-4alpha-dehydratase). BH4 deficiencies have autosomal recessive inheritance pattern in both compound heterozygous (genetic compound) state and homozygous state.
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Curation status: Incomplete
label

tetrahydrobiopterin deficiency
prefixIRI

ONSTR:ONSTR_5173920
prefLabel

tetrahydrobiopterin deficiency
subClassOf

http://onstr.googlecode.com/svn/tags/currentRelease/2014-09-03/ONSTR.owl#ONSTR_2709221
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