How to diagnose amino acid metabolic disorders? Take this guide!

Apr 01 - 2022

How to diagnose amino acid metabolic disorders? Take this guide!

1、Laboratory examination

Laboratory examinations are conducted to fully understand the health status of the patient, amino acid disorder and during these examinations, routine blood tests and amino acid metabolic screening are performed.

The purpose is to understand the patient's amino acid metabolic status, as a basis for diagnosis.


Through CT, X-ray and magnetic resonance imaging to understand the patient's physical condition, mainly to understand whether the patient's nervous system is damaged, in order to carry out the corresponding diagnosis.

3、Genetic testing

Patients suffering from amino acid metabolic diseases are caused by cultural gene defects, so we test the relevant genes in order to understand the expression of the genes affecting the patient.

If a defective gene on chromosome 15 is found during the testing process, it can be used as a basis for diagnosing patients with amino acid metabolic disorders.


During the consultation, the doctor will ask if the patient has any recent physical abnormalities? How old are you?

What is the physical health condition? Is there anyone in your family who can show such symptoms?

Is it possible to have the corresponding examination in other hospital information? What kind of treatment have you received?

What is the effect of the treatment? Is the volume of bowel movements normal recently? Have parents had any medical checkups before marriage?