Timely detection of the disease can lead to faster treatment by following these 5 steps

Timely detection of the disease can lead to faster treatment by following these 5 steps

(A) Anticipatory examination

After asking for medical history, doctors will make preliminary assessment on mental, amino acid disorder intellectual, psychological and growth aspects, and conduct physical examination to determine whether there are any abnormal signs.

Blood phenylalanine concentration, blood tyrosine concentration, plasma amino acid level, and urinary iron chloride will be measured for definite diagnosis.

(B) Laboratory tests

1, plasma amino acid content determination

The plasma levels of leucine, valine and isoleucine are elevated in children with diabetes, and the plasma concentrations of tyrosine and succinylacetone are significantly elevated in children with tyrosinemia.

2、Measurement of urinary organic acid content

Increased excretion of succinylacetone in children with tyrosinemia can be used as an auxiliary diagnosis.

(C) Pathological examination

The test method is blood cell smear or cell biopsy, specifically the genetic analysis of peripheral blood cells collected for enzyme activity determination, in order to facilitate a clear diagnosis.

(D) Principle of treatment

Amino acid metabolic disorders should be treated as soon as they are diagnosed. The younger the age at which treatment begins, the better the prognosis. Common treatment methods include allopathic, pharmacological, and surgical treatments.

(E) Identification and treatment

If the child has convulsions, he should be given antispasmodic treatment.

2. Children with lobar diabetes can be supplemented with other specific amino acids such as isoleucine, valine, alanine and glutamine when a metabolic crisis occurs.

Antidepressants and antidepressants are used when the patient has symptoms of attention deficit disorder, depression and anxiety.


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