An index case for the attenuated end of the mucopolysaccharidosis type VI clinical spectrum.
Mucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome, McKusick #253200) is a lysosomal storage disorder that is caused by a deficiency in the lysosomal exohydrolase N-acetylgalactosamine-4-sulphatase (4-sulphatase, EC 3.1.6.1). We report a patient with no obvious clinical signs of MPS VI that has 5% of normal 4-sulphatase catalytic capacity. This patient represents an index case for the attenuated end of the MPS VI clinical spectrum.
Lysosomal Diseases Research Unit, Department of Genetic Medicine, Women's and Children's Hospital, North Adelaide, SA 5006, Australia. douglasbrooks@adelaide.edu.au
Doug A
DA
Brooks
Gary J
GJ
Gibson
Litsa
L
Karageorgos
Leanne K
LK
Hein
Evelyn F
EF
Robertson
John J
JJ
Hopwood
D000328:Adult; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008247:Lysosomes / Q000378:metabolism; D009083:Mucopolysaccharidoses / Q000378:metabolism*; D009087:Mucopolysaccharidosis VI / Q000235:genetics / Q000378:metabolism*; D020125:Mutation, Missense; D020051:N-Acetylgalactosamine-4-Sulfatase / Q000378:metabolism*
D020051:N-Acetylgalactosamine-4-Sulfatase