Propionic acidemia
I have a two-month-old baby who was born on July 21.
He has gas and a swollen belly; should we do further examinations? His newborn screening sent to National Taiwan University Hospital indicated propionic acidemia, and they asked us to do a second test.
Since it's too far, we went to China Medical University for the retest, and the results came back normal.
Should we consider the results from China Medical University as definitive? A worried mom.
Xiao Yi, 30~39 year old female. Ask Date: 2006/10/13
Dr. Xu Shanjing reply Rare Disease
Ms.
Hsiao-Yi, metabolic disorders can yield slightly different results depending on the severity, the child's age, and various conditions such as whether they have eaten or are ill.
Screening results are typically categorized into three levels: suspicious positive (which may indicate a mild form or could be normal), positive (indicating a definite condition but with varying severity), and normal.
It is essential to determine which level your child falls into based on the results from National Taiwan University Hospital.
If the results from China are completely normal, it is unlikely to be positive; it may indicate a mild condition or be normal, with a higher likelihood of being normal.
However, some mild cases may only show abnormalities when the individual is ill, so it is advisable to remain vigilant and consider further testing at a genetic center.
Taichung Veterans General Hospital, Dr.
Hsu Shan-Ching, October 16, 2006.
Reply Date: 2006/10/13
More Info
Propionic Acidemia (PA) is a rare metabolic disorder that affects the body's ability to break down certain proteins and fats. It is caused by a deficiency of the enzyme propionyl-CoA carboxylase, which is essential for metabolizing propionic acid and other compounds. This condition can lead to a buildup of toxic substances in the body, which can cause a range of symptoms, including vomiting, lethargy, seizures, and developmental delays.
In your case, it is understandable that you are concerned about your two-month-old baby, especially after receiving a positive screening result for propionic acidemia from the newborn screening test at National Taiwan University Hospital. Newborn screening is a crucial step in identifying metabolic disorders early, allowing for timely intervention and management. However, it is also important to note that false positives can occur, and further testing is often required to confirm a diagnosis.
Since you mentioned that you took your baby to China Medical University for a second test and the results came back normal, it is essential to consider the reliability of the testing methods used at both facilities. Generally, both hospitals should adhere to rigorous testing protocols, but discrepancies can happen. It is advisable to discuss the results with your pediatrician or a specialist in metabolic disorders. They can help interpret the results and determine the best course of action.
If the second test at China Medical University is indeed normal, it may indicate that your baby does not have propionic acidemia. However, it is crucial to monitor your baby for any symptoms that may arise and to maintain open communication with your healthcare provider. If your baby is experiencing symptoms such as abdominal distension or excessive gas, it may warrant further investigation to rule out other gastrointestinal issues or metabolic disorders.
In addition to the medical aspects, it is essential to address your emotional concerns as a mother. It is natural to feel anxious when faced with potential health issues regarding your child. Seeking support from healthcare professionals, family, or support groups can help alleviate some of the stress and provide you with the information and reassurance you need.
In summary, while the initial screening for propionic acidemia raised concerns, the normal results from the second test are promising. It is crucial to follow up with your healthcare provider for further evaluation and to keep an eye on your baby's health. If you have any lingering doubts or if your baby exhibits concerning symptoms, do not hesitate to seek additional medical advice. Your proactive approach to your child's health is commendable, and staying informed will help you navigate this situation more effectively.
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