Xu Xu has been diagnosed with a rare disease..?
A friend's child, Xu Xu, has been diagnosed with a rare congenital metabolic disorder known as carnitine-acylcarnitine translocase deficiency.
The symptoms include "seizures," "developmental delays," "laryngeal softening," "limb weakness," "near blindness," and "inability to move independently." He is about to turn one year old next month.
Doctors in Taipei are unable to provide a clear understanding of this condition, and seizures occur almost constantly.
Aside from ongoing rehabilitation, we are desperate to find a place that can provide targeted treatment.
Please help us.
Below are descriptions of my friend's baby's symptoms: http://www.babyhome.com.tw/calendar/0,o1de,mid137409,cid1376825.htm http://www.babyhome.com.tw/calendar/0,o1de,mid137409,cid1632561.htm We are extremely anxious.
Qian Gui, 20~29 year old female. Ask Date: 2004/09/16
Dr. Jian Yingxiu reply Rare Disease
Xu Xu does not have carnitine-acylcarnitine translocase deficiency; the details have been explained to the parents.
Reply Date: 2004/09/16
More Info
Carnitine-Acyl Carnitine Translocase Deficiency (CACT deficiency) is a rare genetic metabolic disorder that affects the body's ability to transport long-chain fatty acids into the mitochondria, where they are oxidized for energy. This condition is part of a group of disorders known as fatty acid oxidation disorders. The symptoms you describe, including seizures, developmental delays, laryngeal softening, limb weakness, near blindness, and inability to move independently, are indeed concerning and indicative of severe metabolic dysfunction.
In infants, CACT deficiency can lead to a range of serious health issues, primarily due to the body's inability to utilize fat for energy effectively. This can result in hypoglycemia (low blood sugar), muscle weakness, and a buildup of toxic metabolites in the blood. The neurological symptoms, such as seizures and developmental delays, are particularly distressing and can significantly impact the child's quality of life.
Diagnosis of CACT deficiency typically involves biochemical testing to measure levels of acylcarnitines in the blood, along with genetic testing to identify mutations in the SLC22A4 gene, which is responsible for the transport of carnitine. If a diagnosis is confirmed, management of the condition usually includes dietary modifications, such as a high-carbohydrate, low-fat diet to minimize the reliance on fatty acid oxidation for energy. In some cases, supplementation with L-carnitine may be recommended to help manage symptoms and improve energy metabolism.
Regarding treatment options, it is crucial to work closely with a metabolic specialist or a pediatrician experienced in managing metabolic disorders. They can provide tailored recommendations based on the child's specific needs and symptoms. Rehabilitation therapies, such as physical therapy, occupational therapy, and speech therapy, can also be beneficial in addressing developmental delays and improving the child's overall functioning.
As for the urgent need for symptomatic treatment, it is essential to have a comprehensive care plan that addresses not only the metabolic aspects of the disorder but also the neurological and developmental challenges. Regular follow-ups with healthcare providers are necessary to monitor the child's progress and adjust treatment as needed.
In terms of where to seek specialized care, consider reaching out to children's hospitals or metabolic clinics that have experience with rare metabolic disorders. These centers often have multidisciplinary teams that can provide a holistic approach to treatment, including nutritionists, genetic counselors, and neurologists.
Finally, it is important to stay informed and advocate for your friend's child. Joining support groups for families dealing with similar conditions can provide emotional support and valuable resources. Organizations dedicated to rare diseases may also offer guidance on research developments and potential clinical trials that could be beneficial.
In summary, CACT deficiency is a complex condition requiring a multifaceted approach to treatment. Early intervention and ongoing support from a specialized medical team can significantly impact the child's development and overall well-being.
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