The molecular basis of mucopolysaccharidosis type I in two Thai patients.
Two Thai patients diagnosed with Hurler syndrome (mucopolysaccharidosis type 1, MPS I) were found to have no detectable alpha-iduronidase (E.C. 3.2.1.76) activity in leukocytes, while normal Thai children all had significant activity, with a mean of 135 +/- 30 nmol/mg/18h. One patient was heterozygous for A75T (311G>A) and S633L (1986C>T) mutation, previously reported to cause MPS I, together with 9 other heterozygous polymorphisms also found in normal controls. The other patient had the previously described frameshift mutation 252insert C and a new nonsense mutation E299X (983G>T).
Ketudat Cairns
James R
JR
Laboratory of Biochemistry, Chulabhorn Research Institute, Bangkok, Thailand.
Keeratichamroen
Siriporn
S
Sukcharoen
Supattra
S
Champattanachai
Voraratt
V
Ngiwsara
Lukana
L
Lirdprapamongkol
Kriengsak
K
Liammongkolkul
Somporn
S
Srisomsap
Chantragan
C
Surarit
Rudee
R
Wasant
Pornswan
P
Svasti
Jisnuson
J
D001483:Base Sequence; D002675:Child, Preschool; D017931:DNA Primers; D005260:Female; D006801:Humans; D008059:Mucopolysaccharidosis I / Q000175:diagnosis / Q000235:genetics*; D011110:Polymorphism, Genetic; D017422:Sequence Analysis, DNA; D013785:Thailand
D017931:DNA Primers