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Suspected pterin‐4a‐carbinolamine dehydratase deficiency: Hyperphenylalaninaemia due to inhibition of phenylalanine hydroxylase by tetrahydro‐7‐biopterin
Author(s) -
Adler C.,
Ghisla S.,
Rebrin I.,
Heizmann C. W.,
Blau N.,
Curtius H. Ch.
Publication year - 1992
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf02435989
Subject(s) - pterin , chemistry , medicine , library science , pediatrics , biochemistry , enzyme , computer science , cofactor
A new form of atypical phenylketonuria coupled with a transient hyperphenylalaninaemia has recently been discovered. The new metabolic disorder is characterized by an accompanying excretion of 7-substituted pterins, i.e. 7-biopterin (primapterin), 6-oxo-7-biopterin and 7-neopterin (anapterin) in the patients' urine (Curtius et al 1988; Dhondt et al 1988). This excretion of 7-substituted pterins appears to be associated with an enzyme defect in the aromatic amino acid hydroxylating system