Symptoms of congenital metabolic diseases can vary widely depending on the specific disorder, but they often share common features. Here are some of the most common symptoms to watch out for:
Symptom |
Description |
Feeding Difficulties: |
Infants may have trouble feeding or exhibit poor weight gain due to metabolic challenges. |
Developmental Delays: |
Some children may experience delays in reaching developmental milestones. |
Enlarged Liver or Spleen: |
Organ enlargement may be a sign of certain metabolic disorders. |
Seizures: |
Some conditions can lead to seizures in affected individuals. |
Unusual Odors: |
Certain metabolic diseases can cause distinctive body odors or breath smells. |
Hypoglycemia: |
Low blood sugar levels may result in shakiness, sweating, or unconsciousness. |
Vomiting or Diarrhea: |
Gastrointestinal symptoms like vomiting and diarrhea may occur. |
If you notice any of these symptoms, especially in infants or young children, seek medical evaluation promptly. Early diagnosis and intervention are critical for managing congenital metabolic diseases effectively.
This post was originally published on July 2, 2023. It was updated on Jan. 11, 2024.