Dibasic amino aciduria

Introduction Double-base amino aciduria is the result of mutations in the transporter gene, which are all autosomal recessive. A clinical symptom of renal amino aciduria, renal amino aciduria is a group of renal tubular diseases in which the proximal renal tubules are mainly responsible for amino acid transport disorders, so that a large amount of amino acids are excreted in the urine. It is autosomal recessive. Due to the deficiency of arginine and ornithine, it is difficult to maintain the function of ornithine (urea) circulation, so the clinical production of hyperammonemia, as well as low tolerance to protein, prone to ammonia poisoning, hepatosplenomegaly.

Cause

Double-base amino acid urinary tract is the result of mutation of the encoded transporter gene. Due to the deficiency of arginine and ornithine, it is difficult to maintain the function of ornithine (urea) circulation, so clinically, hyperammonemia is produced, and The protein is low in tolerance, prone to ammonia poisoning, and hepatosplenomegaly.

an examination

1. Urine examination: A large amount of dibasic amino acids are detected in the urine, and the cystine is normal.

2. Blood test: The plasma two-base amino acid concentration decreases, which can be combined with hyperuricemia.

3. Fecal examination: Amino acids are largely lost from the feces due to poor absorption of amino acids by the jejunum.

4. X-ray for abdominal plain film, angiography, B-ultrasound. Hepatosplenomegaly can often be found.

5. EEG examination and brain CT examination can find abnormalities, and the authors of severe encephalopathy may have diffuse brain atrophy. Amino acid metabolism needs to be differentiated from other causes such as lipid deposition disease, perinatal disease, nervous system damage and other mental retardation, seizures, tremors, ataxia, hyperreflexia and liver disease, dermatitis.

Differential diagnosis

The differential diagnosis of this disease is mainly related to the identification of various types of renal amino acid urine, which are mainly distinguished by specific amino acids in urine. In addition, it should be distinguished from other causes of amino acid urine. For example, cystineuria is mainly differentiated from cystine disease or cystine storage disease, homocysteine urine, and cysteine disease is systemic metabolism. Sexual disease, cystine is deposited in various tissues.

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