phenylalanine hydroxylase deficiency

PAH deficiency

phenylalanine-4-hydroxilase deficiency

PAH deficiency is a congenital metabolic disorder characterized by reduced activity (deficiency in activity) of the enzyme phenylalanine-4-hydroxilaze, that is caused by two recessive mutated PAH alleles in the inherited PAH genome. PAH deficiency (and hypephenylalalninemia, and PKU, respectively) has autosomal recessive inheritance pattern with most cases in compound heterozygous state (genetic compound) where both maternal and paternal PAH alleles are differently mutated and present at chromosome 12. 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.62-63.

http://onstr.googlecode.com/svn/tags/currentRelease/2014-09-03/ONSTR.owl#ONSTR_0128089

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.62-63.

PAH deficiency

phenylalanine-4-hydroxilase deficiency

PAH deficiency is a congenital metabolic disorder characterized by reduced activity (deficiency in activity) of the enzyme phenylalanine-4-hydroxilaze, that is caused by two recessive mutated PAH alleles in the inherited PAH genome. PAH deficiency (and hypephenylalalninemia, and PKU, respectively) has autosomal recessive inheritance pattern with most cases in compound heterozygous state (genetic compound) where both maternal and paternal PAH alleles are differently mutated and present at chromosome 12.

Curation status: Incomplete

phenylalanine hydroxylase deficiency

ONSTR:ONSTR_0128089

phenylalanine hydroxylase deficiency

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

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