Understanding Citrullinemia Type I: Treatment Options and Liver Transplant Considerations
Citrullinemia My child has been diagnosed with Argininemia Type I, a rare disease, and is currently on a low-protein diet for management. Is there a definitive treatment for this condition? Would a liver transplant be recommended? If so, would lifelong immunosuppressive medicatio...
Dr. Jian Yingxiu reply Rare Disease
If this condition is confirmed, liver transplantation can be considered as a treatment option. If the liver transplant is successful, normal dietary habits can be resumed without the concern of recurrent hyperammonemia. However, it is important to consider the risks associated wi...[Read More] Understanding Citrullinemia Type I: Treatment Options and Liver Transplant Considerations
Understanding Eligibility for Major Illness Card with Rare Disease List
Rare Disease List Summary Table Hello, may I ask if the rare disease list announced by the Department of Health includes item number 68, Wilms' tumor, aniridia, genital abnormalities, and intellectual disability syndrome (WAGR syndrome)? Can one apply for a major illness car...
Dr. Jian Yingxiu reply Rare Disease
To apply for this major illness card, one must meet the criteria for WAGR syndrome. Some patients may not exhibit all clinical features, which include Wilms tumor, aniridia, genital abnormalities, and intellectual disability. Therefore, the diagnostic method relies on molecular t...[Read More] Understanding Eligibility for Major Illness Card with Rare Disease List
Understanding ALS: Is It the Same as Lou Gehrig's Disease?
Amyot Amyotrophic lateral sclerosis (ALS) and Lou Gehrig's disease refer to the same condition. ALS is a progressive neurodegenerative disease that affects motor neurons in the brain and spinal cord, leading to muscle weakness, atrophy, and eventually paralysis. The term &qu...
Dr. Jian Yingxiu reply Rare Disease
ALS, or Amyotrophic Lateral Sclerosis, commonly known as Lou Gehrig's disease, is a progressive neurodegenerative disorder that affects motor neurons in the brain and spinal cord. For a detailed introduction, please refer to Dr. Yang Chih-Chao from the Department of Neurolog...[Read More] Understanding ALS: Is It the Same as Lou Gehrig's Disease?
Understanding Growth Disorders in Children: Causes and Solutions
Pediatric Growth Abnormalities Dear Dr. Jian, My son is a sixth grader and stands at 179.5 cm tall. While many parents would be pleased with such height, he has several concerning issues that I would like your advice on regarding management or further medical evaluation. 1. He ...
Dr. Jian Yingxiu reply Rare Disease
In this situation, in addition to parathyroid issues, it may be necessary to consider structural abnormalities of the bones or other congenital metabolic disorders. It is recommended that you bring your previous test results and promptly visit a genetic counseling clinic at a med...[Read More] Understanding Growth Disorders in Children: Causes and Solutions
Understanding Argininemia Type 1: Symptoms, Signs, and Treatment Options
Citrullinemia Type I The fundamental treatment method for Citrullinemia Type I is dietary management, specifically a low-protein diet combined with the use of ammonia scavengers such as sodium phenylbutyrate or L-arginine. Regarding the pre-symptomatic signs, it is known that c...
Dr. Jian Yingxiu reply Rare Disease
If a newborn exhibits rapid breathing during feeding but does not show these symptoms while sleeping, laryngomalacia should be considered, as it may not be indicative of a metabolic disorder. If you are concerned, please take the child to a pediatrician for evaluation. Thank you.[Read More] Understanding Argininemia Type 1: Symptoms, Signs, and Treatment Options
Understanding Female G6PD Deficiency: Insights and Concerns
~Follow-up questions regarding female individuals with Favism? I was really touched to receive the doctor's response. Our family does not have a history of favism on my father's side, but there are relatives on my mother's side who do. Now, our newborn daughter has...
Dr. Jian Yingxiu reply Rare Disease
No, females can also develop the condition. Please follow the subsequent diagnostic confirmation process, and avoid substances that may trigger the disease until a diagnosis is confirmed. Once the enzyme activity of the baby is determined, you can decide whether to continue avoid...[Read More] Understanding Female G6PD Deficiency: Insights and Concerns
Understanding Favism: Do Both Parents Need to Be Carriers for Females?
Favism, also known as fava bean disease, is a genetic disorder characterized by a deficiency of the enzyme glucose-6-phosphate dehydrogen To develop favism, a female must inherit the gene from both parents, meaning both parents need to be carriers of the gene.
Dr. Jian Yingxiu reply Rare Disease
The gene for G6PD deficiency (Favism) is located on the X chromosome. Females inherit one X chromosome from each parent, and if either of these contains a pathogenic mutation, there is a chance of developing enzyme deficiency (Favism). However, because females have another normal...[Read More] Understanding Favism: Do Both Parents Need to Be Carriers for Females?
Understanding Rare Diseases: A Journey of Resilience in Childhood
I want to grow up? The child is seven years old this year. She is in the first grade of elementary school, with a height of 70-75 cm and a weight of 7-7.5 kg. She is unable to express herself and cannot walk, and is currently undergoing rehabilitation. Chromosomal testing has ret...
Dr. Jian Yingxiu reply Rare Disease
Your baby appears to be small at birth, which may suggest a congenital abnormality or possible prenatal injury. The exact cause should be evaluated by consulting a pediatric neurologist or a genetic specialist at a medical center.[Read More] Understanding Rare Diseases: A Journey of Resilience in Childhood
Can Thrombocytopenic Purpura Be Fatal? Urgent Help Needed for 30-Year-Old
Can purpura be fatal? My younger sibling is only 30 years old and is in critical condition! Dear Sir, My sibling has been diagnosed with purpura at Tri-Service General Hospital. They have red spots on their back and abdomen, and their condition fluctuates between better and wors...
Dr. Jian Yingxiu reply Rare Disease
There are many causes of purpura, and the prognosis is often poor. It is advisable to discuss a detailed treatment plan with your attending physician.[Read More] Can Thrombocytopenic Purpura Be Fatal? Urgent Help Needed for 30-Year-Old
Understanding Congenital Myotonia: Will Symptoms Worsen Over Time?
Myotonic Dystrophy Hello! I am the one who just asked about myotonic dystrophy. I would like to ask again about congenital myotonic dystrophy. I am currently 27 years old, and my symptoms are mild, similar to those of a normal person. Will my condition worsen in the future? Thank...
Dr. Jian Yingxiu reply Rare Disease
The differences between typical and congenital manifestations of myotonic dystrophy are significant. It is recommended that you confirm the diagnosis first before inquiring about related genetic and prognostic issues. Thank you.[Read More] Understanding Congenital Myotonia: Will Symptoms Worsen Over Time?
Can My Boyfriend's Myotonia Congenita Be Treated? Understanding the Condition
Is there a treatment for myotonic dystrophy? Hello! I would like to ask about my boyfriend, who is 27 years old and has had congenital myotonia since childhood. It seems that his grandmother also had it, but very mildly, and she is now in her 70s and still able to walk. My boyfri...
Dr. Jian Yingxiu reply Rare Disease
Please visit a genetic counseling center with your boyfriend to understand the patterns of hereditary diseases and your future family planning. If you can bring complete results of any disease screenings, it will further assist the physician in understanding your boyfriend's...[Read More] Can My Boyfriend's Myotonia Congenita Be Treated? Understanding the Condition
Understanding Rare Conditions: When to See a Specialist for Tinnitus-Like Symptoms
Similar to brain buzzing (like the sound of cicadas), but not tinnitus? Based on the ENT examination indicating aging, along with high blood pressure, elevated blood sugar, and obesity, it would be advisable to consult with a primary care physician or an internist. They can provi...
Dr. Jian Yingxiu reply Rare Disease
Please visit an internal medicine or family medicine clinic.[Read More] Understanding Rare Conditions: When to See a Specialist for Tinnitus-Like Symptoms
Understanding Carnitine Deficiency in Preterm Infants: Symptoms and Management
Carnitine deficiency Hello, doctor. My daughter was born prematurely at 28 weeks and is currently 2 months old. She has a deficiency in carnitine and is still in the incubator, struggling with feeding. She experiences frequent abdominal distension and is currently fasting, only t...
Dr. Jian Yingxiu reply Rare Disease
Carnitine deficiency is typically assessed through blood tests measuring acylcarnitine levels, as well as the concentrations of free and total carnitine. If there is suspicion of deficiency, further evaluation may involve skin fibroblast testing for specific enzyme activity or ge...[Read More] Understanding Carnitine Deficiency in Preterm Infants: Symptoms and Management
Understanding Citrullinemia: Key Precautions Before Test Results
"Argininemia" - What should be noted while waiting for the report to come out? My colleague's baby has been diagnosed with an abnormality in arginine metabolism. During the waiting period for the report, what should she pay special attention to? If the final test r...
Dr. Jian Yingxiu reply Rare Disease
For disease introduction, please refer to http://nbs.mc.ntu.edu.tw/explain-MS-citulline.html. It is important to note that communication with the parents should have already taken place. Please monitor whether the baby shows signs of loss of appetite or decreased activity levels.[Read More] Understanding Citrullinemia: Key Precautions Before Test Results
Best Treatment Options for Congenital Adrenal Hyperplasia in Children
Where is the best place to receive treatment for congenital adrenal hyperplasia? Hello Dr. Jian, My child is a boy, currently 5 years and 8 months old, attending kindergarten. He is not yet six years old. Due to his height growth, we recently took him to the hospital for an exa...
Dr. Jian Yingxiu reply Rare Disease
You can seek treatment at hospitals with pediatric endocrinology departments, such as Dr. Li Yen-Chin at Mackay Memorial Hospital, Dr. Tsai Wen-Yo at National Taiwan University, Dr. Tong Yi-Ching, Dr. Yang Chen at Taipei Medical University, and at Beirong or other hospitals. Plea...[Read More] Best Treatment Options for Congenital Adrenal Hyperplasia in Children
Differentiating Between Nodules and Congenital Hernias in Infants
Neonatal nodules Doctor: I have a question to ask. How can we differentiate between a nodule and congenital neonatal hernia in a 2-month-old female infant, considering that the abdominal ultrasound examination was normal at birth?
Dr. Jian Yingxiu reply Rare Disease
A nodule is a manifestation of the skin or superficial tissue beneath the skin. Congenital neonatal hernias primarily occur in the inguinal region, and it is advised to take the infant to a pediatrician for evaluation.[Read More] Differentiating Between Nodules and Congenital Hernias in Infants
Navigating Life with an Unnamed Rare Disease: A Family's Journey
Illnesses without a specific diagnosis? Hello Doctor, I would like to ask you a question. My nephew was born in 2003. When he was 2 to 3 months old, we noticed some abnormalities, and my sister took him to the hospital for examination. The result showed that he has an extra half ...
Dr. Jian Yingxiu reply Rare Disease
Your condition is classified as a chromosomal abnormality disease, which primarily affects the brain, heart, gastrointestinal tract, or other internal organs. The specifics depend on whether there are any deficiencies in the chromosomal genetic material and whether the connection...[Read More] Navigating Life with an Unnamed Rare Disease: A Family's Journey
Understanding Tyrosinemia: Causes, Treatment, and Growth Impact in Children
Tyrosinemia I gave birth to a child who was diagnosed with tyrosinemia after screening. She is currently on a special formula for treatment. Will this condition improve? The doctor mentioned that my daughter's condition is mild. Why does my child have this disease when both ...
Dr. Jian Yingxiu reply Rare Disease
Tyrosinemia is an autosomal recessive genetic disorder, where parents are carriers and do not exhibit symptoms. Please discuss your baby's condition regarding tyrosinemia further with your physician. If the increase in tyrosine levels is not due to immature liver function, t...[Read More] Understanding Tyrosinemia: Causes, Treatment, and Growth Impact in Children
Can Primary Chronic Granulomatous Disease in Infants Be Fully Treated?
Primary Chronic Granulomatous Disease? Is it possible to achieve a complete cure for an infant with chronic granulomatous disease?
Dr. Jian Yingxiu reply Rare Disease
This condition is characterized by the inability of neutrophils to effectively kill certain microorganisms. Patients with this disorder can use prophylactic antibiotics and interferon gamma (IFN-γ) to reduce the risk of infection, but a complete cure relies on successful bone mar...[Read More] Can Primary Chronic Granulomatous Disease in Infants Be Fully Treated?
Understanding Skin Whorl Syndrome: Insights and Treatment Options
Special outpatient clinic for skin vortex disease..? Skin vortex disease special outpatient clinic... I was treated for it when I was in the second grade of elementary school (at Chiayi Christian Hospital), and it has been nearly 17 years since then. The doctor at that time menti...
Dr. Jian Yingxiu reply Rare Disease
Please inquire with dermatology or surgery departments about the latest developments. Thank you.[Read More] Understanding Skin Whorl Syndrome: Insights and Treatment Options