Amino-Acid Metabolism Disorder

Amino-acid metabolism disorders are a group of inborn errors of amino-acid catabolism or transport, including phenylketonuria, maple-syrup urine disease, homocystinuria, urea-cycle disorders, and organic acidemias. They present in neonates/infants with poor feeding, vomiting, encephalopathy, metabolic acidosis/hyperammonemia, and neurodegeneration if untreated. Newborn screening and early metabolic diet/medical formula dramatically improve outcomes.

Common Symptoms

Poor feeding; vomiting; encephalopathy; seizures; abnormal odor; developmental delay; metabolic acidosis/hyperammonemia

Causes and Pathogenesis

Enzyme/transporter defects in amino-acid pathways cause toxic accumulation of amino acids or their metabolites, especially neurotoxic.

Treatment

Special low-protein/medical formula; restricted amino-acid diet; vitamin cofactors; emergency metabolic management; liver transplant in selected cases

Preventive Measures

Newborn screening; genetic counseling; metabolic specialist follow-up.

Department to Visit

It is recommended to visit the Pediatrics department; an appointment can be booked on this platform before the visit.

Warm reminder: The above information is for health science reference only and cannot replace professional medical diagnosis. If you have related symptoms, please seek medical attention at a regular hospital promptly.