台大基因部 胡務亮

Wuh-Liang Hwu is an associate professor in the Department of Paediatrics at the National Taiwan University Hospital (NTUH), and at the National Taiwan University College of Medicine; Taipei, Taiwan. Dr Hwu completed his medical degree in 1984, and his doctorate in 1997, at the National Taiwan University. Throughout his career, in addition to holding several academic positions at the NTUH, Dr Hwu completed a postdoctoral fellow in the Department of Genetics, Johns Hopkins University, Baltimore, MD, USA, and was a visiting scientist at the Mayo Clinic, Rochester, MN, USA. Dr Hwu is a member of several societies including the Taiwan Society of Medicine, the Taiwan Society of Paediatrics, the American Society of Human Genetics, and the International Society of Neonatal Screening. He served as president of the Taiwan Human Genetics Society from 1999 until 2002, and is a board member of the Asia-Pacific Society of Human Genetics. Dr Hwu is a prolific author and has, since 2004 alone, published over 50 peer-reviewed papers.

Prevention of mucopolysaccharidosis
Wuh-Liang Hwu
Department of Pediatrics and Medical Genetics, National Taiwan
University Hospital, Taipei, Taiwan

Mucopolysaccharidosis (MPS) is a group of disorders caused by the deficiency of enzymes degrading glycosaminoglycan (GAG). These diseases are individually very rare, but they as a whole represent one of the major categories in inborn genetic disorders. Different types of MPS have all varieties of clinical manifestations, but more or less including facial dysmorphism, short stature, bone dysplasia, hepatosplenomegaly, cardiomyopathy or mental retardation.

In recent years, treatments have been developed for MPS1, MPS6, and MPS2. The treatments are a replacement of the deficiency lysosomal enzymes. Outcome of MPS patients have been improved significantly by these treatments.However, a treatment means weekly infusion of the drug, and many fixed damages prior to the initiation of the treatment can’t be corrected.Therefore, the availability of treatment basically doesn’t change the choice of reproduction, that is, most parents
will request a prenatal diagnosis for the following pregnancies and will choose artificial abortion if the fetus is affected.

However, the treatments bring the patients back to the hospitals and to the society. Therefore the significance of these diseases is increasing known both to the general population and to the professional personnel. Voices towards early diagnosis and early treatment are increasing, and technical platforms for population screening are now developing.

However, MPS can’t be prevented. They are recessive disorders and carriers don’t express any biomarker. This situation is similar to most other rare inborn errors. Mutations inherited from the ancestors and fresh mutations will bring the disease to young couples, unexpected and unpredictable. Therefore, our society should be prepared now and in the future, to accept and to help those patients and families.