1.
Am J Med Genet A
; 130A(2): 211-3, 2004 Oct 01.
Article
in English
| MEDLINE
| ID: mdl-15372525
Subject(s)
Menkes Kinky Hair Syndrome/pathology , Occipital Bone/abnormalities , Abnormalities, Multiple/genetics , Abnormalities, Multiple/pathology , Adenosine Triphosphatases/genetics , Adenosine Triphosphatases/metabolism , Cation Transport Proteins/genetics , Cation Transport Proteins/metabolism , Child , Child, Preschool , Copper-Transporting ATPases , Epilepsies, Myoclonic/pathology , Face/abnormalities , Face/pathology , Follow-Up Studies , Humans , Infant , Karyotyping , Male , Menkes Kinky Hair Syndrome/genetics , Menkes Kinky Hair Syndrome/metabolism , Microcephaly/pathology , Mutation , RNA, Messenger/genetics , RNA, Messenger/metabolism , Recombinant Fusion Proteins/genetics , Recombinant Fusion Proteins/metabolism , Reverse Transcriptase Polymerase Chain Reaction
2.
Mol Genet Metab
; 81(2): 137-9, 2004 Feb.
Article
in English
| MEDLINE
| ID: mdl-14741196
ABSTRACT
We report on the long-term follow-up of the first Italian patient with the tetrahydrobiopterin (BH4)-responsive type of phenylalanine hydroxylase deficiency (R243X/Y414C genotype). The patient was diagnosed by the newborn screening for phenylketonuria (PKU) and with a positive BH4 loading test. Introduction of BH4 (initially 10 and later 20 mg/kg/day) in addition to reduced low-phenylalanine diet resulted in therapeutic plasma phenylalanine concentrations (<340 micromol/L). Very good compliance and no side effects in this patient demonstrate the great potential of BH4 in the treatment of some patients with mild PKU.
