Specific amino acid urine

Introduction Specific amino acid urine: mainly threonine serine histidine alanine hydroxyproline excretion is normal, so it can be distinguished from all amino acid urine, glycine proline and hydroxyproline excretion can be normal with iminoglycine urine The difference is that the urinary two-base amino acid excretion is also normal and can be distinguished from cystine urine.

Cause

Amino acids are an important nutrient in the human body, and most of the amino acids in the body can be used to synthesize proteins. Amino acids in the plasma can be freely filtered out of the urinary tract into the original urine, most of which can be reabsorbed back into the blood through the proximal tubules. When renal tubular function declines, the amino acid excretion in the urine increases. There are many causes of amino aciduria, most of which are genetic diseases, and kidney damage caused by drugs or poisons. Pathological amino acid urine can be divided into spilled amino acid urine and renal amino acid urine. The former refers to an increase in blood amino acids, which exceeds the reabsorption capacity of the renal tubules; the latter is due to congenital tubular lesions such as Fanconi syndrome and hepatolenticular lesions. Renal amino aciduria is a hereditary disease, including basic amino aciduria (cystineuria), neutral amino aciduria (Hartnup disease), other amino acid urine, etc., which is caused by a defect in the proximal convoluted tubule transport.

an examination

Related inspection

Fecal microscopic examination of denatured globin bodies for detection of proline

diagnosis:

(1) Pella-like skin rash: the exposed parts of the skin are red and dry, with scales or splitting, foaming and exudation. Light-sensitive sun exposure increases the response to nicotinamide treatment.

(2) paroxysmal cerebellar ataxia: mostly occurs in the severe period of the disease, manifested as gait instability, limb tremor, may have involuntary dance-like action, poor eye-collecting power, nystagmus often has severe diplopia, may have seizure Deficiency or fainting, occasional mental symptoms and emotional instability, illusory sputum or dementia and other episodes usually no more than 1 week to relieve themselves, leaving no sequelae of normal intelligence or mild damage to the body is relatively short.

(3) Specific amino acid urine: mainly threonine serine histidine alanine hydroxyproline, the normal output can be distinguished from the whole amino acid urine, the output of glycine proline and hydroxyproline can be normal The difference between iminoglycine and urine, the second base amino acid excretion in urine can also be distinguished from cystine urine.

(4) Intestinal transport disorder: due to the decomposition of amino acids, especially tryptophan in the intestinal tract, a large amount of sputum metabolite sulphate phenol (urine blue mother) thiol-3-acetic acid can be present in the urine.

(5) Fecal examination: In addition to tryptophan, there are a large number of branched-chain amino acids phenylalanine and other amino acids in the feces. The disease has little effect on the growth and development of children, and the height is only slightly affected, and the mental development is basically normal.

Differential diagnosis

Amino aciduria: (hyperaminoaciduria) is a type of metabolic disease characterized by excessive amino acid excretion in the urine, which can be divided into pre-renal, renal and mixed.

Two-base amino acid urinary disease: Double-base amino acid urinary tract is the result of mutation of the encoded transporter gene, which is autosomal recessive.

Dicarboxyl amino aciduria: a clinical symptom of renal amino aciduria. Renal Aminoaciduria is a group of renal tubular diseases in which the proximal tubules are mainly responsible for amino acid transport disorders, resulting in the excretion of large amounts of amino acids in the urine.

--Amino Acid Urine: Complications and mortality after esophageal perforation are significantly related to the time from onset to diagnosis. Therefore, it is very important to make a rapid diagnosis of esophageal perforation in the early stage. The neck appears after all the instruments in the esophagus are operated. Patients with chest or abdominal pain, due to the possibility of esophageal perforation, Mackler's triad is vomiting, lower chest pain, lower neck subcutaneous emphysema should be more quickly suspected of esophageal perforation, and should be further examined, chest Trauma, especially in patients with trauma near the esophagus, should be routinely checked for esophageal injury. When it is important to think about this disease, combined with relevant medical history, symptoms, signs and necessary auxiliary examinations, timely and correct diagnosis can be made. A small number of cases were not diagnosed in time, until the empyema appeared in the later stage, and even the food was found in the chest or thoracic drainage.

The material in this site is intended to be of general informational use and is not intended to constitute medical advice, probable diagnosis, or recommended treatments.