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Assessing Stem Cell Transplant for Mucopolysaccharidosis Type IV-A in Children

Mucopolysaccharidosis baby Hello, Dr. Hsu. My baby is two and a half years old, female, diagnosed with Mucopolysaccharidosis Type IV A. Currently, she has mild pectus carinatum, rib flaring, and spinal protrusion, but her cognitive abilities are good. I would like to know if she ...


Dr. Xu Jiaqi reply Rare Disease
For cases that cannot enter clinical trials for enzyme therapy, hematopoietic stem cell transplantation is another option. There are successful cases of 15-year-old patients with MPS IVA receiving stem cell transplants abroad. Follow-up over ten years post-transplantation has sho...

[Read More] Assessing Stem Cell Transplant for Mucopolysaccharidosis Type IV-A in Children


Warts vs. Erythema Multiforme: Do I Need to Stop Antihistamines?

Warts vs. Molluscum contagiosum Doctor, I have urticaria and take antihistamines daily. Recently, I underwent cryotherapy for plantar warts. Should I discontinue the antihistamines?


Dr. Xu Jiaqi reply Rare Disease
The use of antihistamines should be determined based on the symptoms of urticaria and does not affect the efficacy of cryotherapy for plantar warts.

[Read More] Warts vs. Erythema Multiforme: Do I Need to Stop Antihistamines?


Addressing Growth Concerns in Children Below the 3rd Percentile

Long-term weight issues below 3% body weight? Dr. Hsu: Hello, my daughter is currently nearly 1 year and 8 months old and weighs only 7.5 kg, which is far below the growth chart's 3rd percentile. She was born full-term (38 weeks and 4 days) at only 2308 grams, and this has b...


Dr. Xu Jiaqi reply Rare Disease
Apple Mom: Based on the content of the letter, it appears that my daughter is experiencing underweight due to long-term inadequate nutrition. If we consider visiting the pediatric gastroenterology department at Taichung Veterans General Hospital, we can consult with Director Lin ...

[Read More] Addressing Growth Concerns in Children Below the 3rd Percentile


Understanding the Differences Between Three Rare Metabolic Disorders

What are the differences among the three rare diseases mentioned above? 1. Methylmalonic acidemia 2. Isovalerylic acidemia 3. Glutaric acidemia


Dr. Xu Jiaqi reply Rare Disease
1. Methylmalonic Acidemia (MMA): Under normal circumstances, propionic acid is rapidly metabolized into methylmalonic acid, which is then converted into succinic acid by the enzyme methylmalonyl CoA mutase (MMM). Succinic acid is further metabolized by other enzymes into carbon d...

[Read More] Understanding the Differences Between Three Rare Metabolic Disorders