Understanding Citrullinemia: Diagnosis, Symptoms, and Treatment Options
Regarding Citrullinemia Hello Doctor: Our baby tested positive in the newborn screening. The retest also came back positive. I would like to understand if this confirms that my child has this condition. Additionally, what symptoms are associated with this condition? Will it have ...
Dr. Lin Xuanpei reply Rare Disease
Which item in the newborn screening are you referring to? Is the physician responsible for explaining the results a specialist in Pediatric Genetics and Metabolism or Pediatric Endocrinology? If so, the parent should not be so confused. A positive result in newborn screening typi...[Read More] Understanding Citrullinemia: Diagnosis, Symptoms, and Treatment Options
Understanding Trisomy 13: Diagnosis, Implications, and Treatment Options
Postnatal screening for chromosomal abnormalities? The female infant was found to have a partial trisomy of chromosome 13 upon examination. What disease could this indicate? Are there any medical treatments available (since neither my wife nor I have any family history of abnorma...
Dr. Lin Xuanpei reply Rare Disease
In the case of a partial trisomy of chromosome 13, it is essential to first determine whether the additional material is located on the short arm or the long arm, and whether it represents significant chromosomal material or is merely a benign duplication of the short arm of chro...[Read More] Understanding Trisomy 13: Diagnosis, Implications, and Treatment Options
Understanding the Types of Rare Diseases: Genetic vs. Organ-Based Conditions
What are systemic and genetic rare diseases? Hello Doctor: My child has been diagnosed with congenital intestinal neurodevelopmental disorder, which is classified as atypical and is an extremely rare disease, as diagnosed by Dr. Wang Nianlu. He has undergone three surgeries, all ...
Dr. Lin Xuanpei reply Rare Disease
The congenital intestinal neurodevelopmental disorder that the inquirer’s child suffers from has been confirmed by Dr. Wang Nianlu to be a longer segment form of congenital aganglionic megacolon, commonly known as "congenital megacolon" (medically referred to as Hirschs...[Read More] Understanding the Types of Rare Diseases: Genetic vs. Organ-Based Conditions
Prenatal Screening for Mucopolysaccharidosis: What You Need to Know
Mucopolysaccharidosis - Prenatal Diagnosis Hello Dr. Lin, My husband's elder brother's son has mucopolysaccharidosis and is currently about 7 years old, receiving regular treatment at Mackay Memorial Hospital. I am currently 11 weeks pregnant with my second child; my f...
Dr. Lin Xuanpei reply Rare Disease
It is essential to first determine which type of mucopolysaccharidosis (MPS) your husband's nephew has, as the inheritance patterns differ among the various types. However, based on your situation, it can be inferred that whether it is the X-linked recessive type (MPS II) or...[Read More] Prenatal Screening for Mucopolysaccharidosis: What You Need to Know
Understanding Urea Cycle Disorders: Prognosis and Treatment Options
Urea cycle disorder If a newborn, just three days old, develops a urea cycle disorder due to impaired arginine metabolism, with blood ammonia levels previously reaching around 4000-5000 and now reduced to 300-400, the physician plans to apply for a medication under a special prog...
Dr. Lin Xuanpei reply Rare Disease
To the consulting netizens: The condition of the sick baby may not be very optimistic, but we should still do our best to cooperate with the attending physician and the medical team to fight for the child's chance of survival. These types of diseases are all classified as au...[Read More] Understanding Urea Cycle Disorders: Prognosis and Treatment Options
Exploring Rare Genetic Disorders: Symptoms in Two Young Patients
It is uncertain whether it is a rare disease? Hello Dr. Lin, I am an occupational therapist. I have two young patients who share common symptoms, the most prominent being underdeveloped muscles in the upper and lower limbs, which has resulted in particularly small hands and feet,...
Dr. Lin Xuanpei reply Rare Disease
Please provide the gender and age of the child, and whether they are siblings. If there are any relevant neurological examination images or brain imaging data available, please provide them to assist in assessing potential conditions. Based solely on the information described in ...[Read More] Exploring Rare Genetic Disorders: Symptoms in Two Young Patients
Prenatal Screening Options for Non-Ketotic Hyperglycinemia
Non-ketotic hyperglycinemia Dr. Lin, my first child had non-ketotic hyperglycinemia and passed away two weeks later due to our decision to discontinue aggressive treatment. I would like to ask if there are any prenatal screening options available to check if our next child is hea...
Dr. Lin Xuanpei reply Rare Disease
According to my knowledge, the prenatal diagnosis of "non-ketotic hyperglycinemia" in the country still requires sending samples abroad for testing to ensure accuracy, primarily relying on genetic testing, as enzyme analysis has its limitations. Related matters and reli...[Read More] Prenatal Screening Options for Non-Ketotic Hyperglycinemia
Are There Side Effects of AREDIAR Treatment for Osteogenesis Imperfecta?
Does AREDIA have side effects? Hello Dr. Lin: I would like to inquire about bisphosphonate treatment (AREDIAR treatment) for osteogenesis imperfecta. Is it a periodic treatment? Are there any significant side effects associated with this treatment? Could it cause any inconvenienc...
Dr. Lin Xuanpei reply Rare Disease
Dear online user Xiao Yang: The bisphosphonate treatment (AREDIA therapy) for osteogenesis imperfecta requires monthly injections. The efficacy is generally better in patients who are not yet adults, and there is less consensus on whether adult patients still need long-term tre...[Read More] Are There Side Effects of AREDIAR Treatment for Osteogenesis Imperfecta?
Understanding the Impact of Sulfite Oxidase Deficiency Beyond the Nervous System
Sulfite oxidase Hello Dr. Lin: May I ask, besides the toxic reactions in the nervous system, what other organs or tissues may be affected in a 3.5-year-old child with sulfite oxidase deficiency?
Dr. Lin Xuanpei reply Rare Disease
We have received your message and will do our best to assist you. However, we are unable to read the Chinese medical terms. Please provide the full English names so we can respond accordingly.[Read More] Understanding the Impact of Sulfite Oxidase Deficiency Beyond the Nervous System