(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.
Because they contribute to the production of glutathione, which is necessary for eye and general health, and taurine's role in the removal of waste from the retina, cysteine, glycine, and glutamine are particularly important for vision.
Having too many amino acids in your body might lead to the following consequences: digestive distress, including bloating. abdominal discomfort Diarrhea.
Tryptophan intake can benefit amino acid for anxiety maintenance when it is increased. Tryptophan is an amino acid that does not have adverse effects, unlike many medicines that alter serotonin, especially if you acquire all of your amino acids from food. Tryptophan can be obtained via diet or supplements.
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