Question
What diseases can a 4-month-old baby’s amino acid profile test detect?
Answer
The amino acid profile test can detect amino acid deficiency metabolic diseases. Symptoms of amino acid deficiency include hypoglycemia, hyperammonemia, acidosis, low blood total/free amino acids, myopathy, cardiomyopathy, encephalopathy, and Reye-like syndrome. Treatment involves taking L-Caritie 25mg/kg orally every 6 hours to correct the deficiency. Pediatric genetic metabolic diseases can lead to secondary amino acid deficiency. Here is a case of supplementation for systemic amino acid deficiency. The patient was a 10-year-old girl who was admitted on February 2, 1998, due to recurrent vomiting and weakness for two and a half years. She had experienced one seizure and had a blood glucose level of 2mmol/L. She had recently become significantly emaciated and weak. Her intelligence was normal. There was no special medical history, and there was no family history of similar diseases. Physical examination: moderate nutritional development, clear consciousness, normal heart and lungs, liver palpable 2.5cm below the costal margin, texture moderate, weakened muscle strength in the limbs, Gower sign positive. Laboratory tests: ECG showed low limb voltage, electromyogram and EEG were normal, cardiac and abdominal ultrasound showed no abnormalities, brain CT and MRI showed brain atrophy changes, peripheral blood routine, serum potassium, sodium, chloride, calcium were normal, blood triglycerides, high-density lipoprotein cholesterol, low-density lipoprotein cholesterol were normal. Urine metabolic product screening was negative. 24-hour urine free cortisol, blood insulin, C-peptide were normal; blood total bilirubin and direct bilirubin were normal; SGPT, SGOT, CPK, and LDH were slightly to moderately elevated; fasting blood glucose was 2.97-4.11mmol/L.