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.
Brooks
Doug A
DA
Lysosomal Diseases Research Unit, Department of Genetic Medicine, Women's and Children's Hospital, North Adelaide, SA 5006, Australia. douglasbrooks@adelaide.edu.au
Gibson
Gary J
GJ
Karageorgos
Litsa
L
Hein
Leanne K
LK
Robertson
Evelyn F
EF
Hopwood
John J
JJ
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