Understanding Methylmalonic Acidemia: Causes, Symptoms, and Genetic Factors
Methylmalonic acidemia Doctor: Hello, I would like to ask about this condition. My good friend, she and her husband had their second child, who was diagnosed with this rare disease just one month after birth. The doctor mentioned that this rare disease is genetic, but neither of ...
Dr. Jian Yingxiu reply Rare Disease
This is an autosomal recessive genetic disorder, where both parents are carriers and do not exhibit symptoms. Each child has a 1 in 4 chance of being affected. If a previous child has been born with this type of disorder, special prenatal testing can be considered to check for th...[Read More] Understanding Methylmalonic Acidemia: Causes, Symptoms, and Genetic Factors
Understanding Tyrosinemia in Newborns: Treatment Options and Surgery
Tyrosinemia I would like to ask if there are any treatment options for newborns with tyrosinemia, and whether surgery is necessary for recovery.
Dr. Jian Yingxiu reply Rare Disease
The newborn screening method your baby underwent utilizes "Tandem Mass Spectrometry" to analyze the concentrations of various amino acids, organic acids, and fatty acid metabolites in dried blood spot specimens. If the concentration of any detected substance exceeds the...[Read More] Understanding Tyrosinemia in Newborns: Treatment Options and Surgery
Understanding Rare Metabolic Disorders in Infants: A Guide for Parents
Metabolic disorder in men? Hello, Dr. Jian. My baby has undergone tandem mass spectrometry analysis for metabolic disorders after birth, and the results indicate a suspected positive for argininemia, hyperammonemia/hyperornithinemia/homocitrullinuria (HHH). This is already the re...
Dr. Jian Yingxiu reply Rare Disease
The newborn screening method your baby underwent utilizes "Tandem Mass Spectrometry" to analyze the concentrations of various amino acids, organic acids, and fatty acid metabolites in dried blood spot samples. If the concentration of any detected substance exceeds the s...[Read More] Understanding Rare Metabolic Disorders in Infants: A Guide for Parents
Understanding Insulinoma: A Rare Disease and Its Management Challenges
Insulinoma Is pancreatic neuroendocrine tumor considered a rare disease? Are there other names for it within the category of rare diseases? Recently, our institution admitted a patient with this diagnosis. Currently, the patient's blood glucose levels are maintained between ...
Dr. Jian Yingxiu reply Rare Disease
Nesidioblastosis, a type of pancreatic neuroendocrine tumor, can be effectively managed through surgical intervention in some patients to alleviate hypoglycemic symptoms. For those who are not surgical candidates, pharmacological treatment may be considered. Currently, we are usi...[Read More] Understanding Insulinoma: A Rare Disease and Its Management Challenges
Understanding Whirling Disease: Symptoms and Insights on This Rare Condition
Vortex syndrome What is vortex syndrome? What are its symptoms?
Dr. Jian Yingxiu reply Rare Disease
Based on your description, it is difficult to determine what your issue is. Please provide more information, such as the English name of the condition or the symptoms you are experiencing. Thank you.[Read More] Understanding Whirling Disease: Symptoms and Insights on This Rare Condition
Understanding Galactosemia: What to Do After a Positive Screening Test
Galactosemia Doctor: If my child has a presumptive positive screening for galactosemia and needs to undergo a third confirmatory test, does that mean my child definitely has galactosemia? I'm really worried. Isn't it said that babies will become lethargic after drinking...
Dr. Jian Yingxiu reply Rare Disease
If the screening for galactosemia shows a false positive, a third retest will be necessary, so please wait for the screening results. If the galactose blood levels are high enough to pose a risk, you will be directly notified to go to the hospital for further examination. Galacto...[Read More] Understanding Galactosemia: What to Do After a Positive Screening Test
Potential Treatments for Skin Regeneration in Scleroderma Patients
Patients with scleroderma may be prescribed treatments to promote skin regeneration or the growth of new skin? Dr. Jian: A young girl was diagnosed with scleroderma over six years ago at the age of ten. Throughout this long journey of illness, her physical symptoms have stagnated...
Dr. Jian Yingxiu reply Rare Disease
Please consult a physician from the Rehabilitation Medicine, Rheumatology, or Dermatology departments. Thank you.[Read More] Potential Treatments for Skin Regeneration in Scleroderma Patients
Understanding Fatty Acid Oxidation Disorders: Symptoms, Pathways, and Dietary Considerations
Fatty Acid Oxidation Disorders Hello Dr. Jian: I have a friend who has issues with fatty acid oxidation, so I am curious about what symptoms are associated with fatty acid oxidation disorders. I would also like to ask about the metabolic pathways involved in fatty acid oxidation ...
Dr. Jian Yingxiu reply Rare Disease
Fatty acids are an important source of energy for the human body. Fatty acid oxidation occurs in the mitochondria. Disorders of fatty acid oxidation can lead to energy deficiency and metabolic toxicity, resulting in symptoms such as encephalopathy, cardiomyopathy, and myopathy. N...[Read More] Understanding Fatty Acid Oxidation Disorders: Symptoms, Pathways, and Dietary Considerations
Confusing Symptoms: What to Do About Unexplained Skin Rashes?
Confusing symptoms In the past six months, I have developed small red spots on my skin (almost all over my body), varying in size. Although there aren't many, they seem to be increasing gradually, and I'm a bit concerned. I'm thinking about seeing a doctor, but I&#...
Dr. Jian Yingxiu reply Rare Disease
Please consult a dermatologist first. Thank you.[Read More] Confusing Symptoms: What to Do About Unexplained Skin Rashes?
Can Patients with Favism Safely Use Camphor Wood Furniture?
Can patients with favism use furniture made of camphor wood? Hello, doctor. May I ask if patients with favism can use furniture made of camphor wood? I have searched for a lot of information but found no relevant data. Since this concerns my child's health, I kindly request ...
Dr. Jian Yingxiu reply Rare Disease
Dear Ms. Yeh, The furniture made from camphor wood does not affect individuals with Favism. We have compiled a FAQ on Favism, which you can view on this webpage: http://www.genes.at-taiwan.com/genehelp/database/disease/G6PD_ans.htm#g10. Thank you for your inquiry. Sincerely, ...[Read More] Can Patients with Favism Safely Use Camphor Wood Furniture?
Understanding Behçet's Syndrome: Causes, Symptoms, and Treatment Options
Behçet's syndrome is a complex condition that requires a multidisciplinary approach for treatment. Management typically includes: 1. **Medications**: - **Corticosteroids**: To reduce inflammation during flare-ups. - **Immunosuppressants**: Such as azathioprine or cyc...
Dr. Jian Yingxiu reply Rare Disease
Are you referring to Behçet's disease?[Read More] Understanding Behçet's Syndrome: Causes, Symptoms, and Treatment Options
Understanding Chronic Granulomatous Disease: Complexity, Treatment, and Prognosis
Chronic granulomatous disease Is this disease very complex? Does the treatment process take a long time? What should I pay attention to after going home? I found information online that the prognosis seems to be poor; is that true?
Dr. Jian Yingxiu reply Rare Disease
The definitive treatment for X-linked Chronic Granulomatous Disease is hematopoietic stem cell transplantation, with risks depending on the dangers associated with the transplant procedure. The administration of interferon has been shown to enhance immune function in some patient...[Read More] Understanding Chronic Granulomatous Disease: Complexity, Treatment, and Prognosis
Dietary Considerations for Babies with Mucopolysaccharidosis
Dietary Considerations for Babies with Mucopolysaccharidosis Dietary Considerations for Babies with Mucopolysaccharidosis
Dr. Jian Yingxiu reply Rare Disease
Mucopolysaccharidosis itself does not require a special diet, but associated complications may necessitate individualized dietary recommendations. Patients should consult their physician regarding specific dietary considerations.[Read More] Dietary Considerations for Babies with Mucopolysaccharidosis
Is Alopecia a Rare Disease? Understanding Its Prevalence and Impact
Is this a rare disease? Hello: Is "Alopecia" a rare disease? I have a friend who has this condition, please help me answer, thank you.
Dr. Jian Yingxiu reply Rare Disease
It is unclear whether there are any associated abnormalities. Alopecia universalis is not a rare condition on its own. However, if there are other associated abnormalities, it may indicate ectodermal dysplasia, which is classified as a rare disease. Please consult the original tr...[Read More] Is Alopecia a Rare Disease? Understanding Its Prevalence and Impact
Understanding ALD: Key Causes of Mortality and Oil Mixing Ratios Explained
ALD The primary cause of death in patients with ALD (Alcoholic Liver Disease) is liver failure, which can lead to complications such as hepatic encephalopathy, variceal bleeding, and infections. The 4:1 ratio for oil refers to the volume ratio.
Dr. Jian Yingxiu reply Rare Disease
Patients with ALD primarily die due to the inability to breathe and swallow independently. The oil is mixed in a 4:1 ratio, referring to weight.[Read More] Understanding ALD: Key Causes of Mortality and Oil Mixing Ratios Explained
Is Crohn's Disease Considered a Rare Disease?
Is it a rare disease? Hello! Is Crohn's disease considered a rare disease?
Dr. Jian Yingxiu reply Rare Disease
It has not yet been classified as a rare disease.[Read More] Is Crohn's Disease Considered a Rare Disease?
Understanding Propionic Acidemia: Follow-Up Testing and Positive Rates
Propionic acidemia The rate of positive results in confirmatory testing for suspected propionic acidemia in newborn screening is approximately 50%. Propionic acidemia is a rare inherited metabolic disorder caused by a deficiency of the enzyme propionyl-CoA carboxylase, which is e...
Dr. Jian Yingxiu reply Rare Disease
For information on propionic acidemia, please refer to http://ntuh.mc.ntu.edu.tw/gene/genehelp/database/disease/Propionic_acidemia_940429.htm. A positive result in newborn screening does not necessarily indicate that the infant is affected by the disease. Please ensure to follow ...[Read More] Understanding Propionic Acidemia: Follow-Up Testing and Positive Rates
Understanding Rare Congenital Disease: What Does a C2 Value of 53 Mean?
Congenital rare diseases. What is C2? A newborn was tested and found to have a rare disease with a C2 value of 53, while the standard is 50.
Dr. Jian Yingxiu reply Rare Disease
C2 refers to C2-acylcarnitine, which is one of the metabolic products of fatty acid organic acid metabolism. In common metabolic disorders, it is usually not expressed solely by an increase in C2 acylcarnitine, but rather in conjunction with elevated levels of other carnitine con...[Read More] Understanding Rare Congenital Disease: What Does a C2 Value of 53 Mean?
Understanding Ear Fistulas: Causes, Symptoms, and Treatment Options
About the ear? Hello, I would like to inquire about an issue with an ear fistula. There is a hole above my ear that is discharging fluid and has an unpleasant odor. I would like to know what options are available to address my concerns. Thank you.
Dr. Jian Yingxiu reply Rare Disease
Please consult an otolaryngologist or a surgeon.[Read More] Understanding Ear Fistulas: Causes, Symptoms, and Treatment Options
Understanding Alpers Syndrome: Symptoms, Causes, and Resources
What is "Alpers' syndrome"? Hello, doctor: What is "Alpers syndrome"? My friend's symptoms include waking up in the middle of the night accompanied by shortness of breath. His doctor mentioned that this disease can be caused by a viral infection, ult...
Dr. Jian Yingxiu reply Rare Disease
Please provide a detailed description or consult the original diagnosing physician. Thank you.[Read More] Understanding Alpers Syndrome: Symptoms, Causes, and Resources