About 5-Oxoprolinase Deficiency

Glutathione Synthetase Deficiency, also known as pyroglutamic aciduria, is related to hemolytic anemia and bilirubin metabolic disorder, and has symptoms including abdominal pain, diarrhea and vomiting. An important gene associated with Glutathione Synthetase Deficiency is GSS (Glutathione Synthetase), and among its related pathways/superpathways are Metabolism and Metapathway biotransformation Phase I and II. Affiliated tissues include brain, neutrophil and bone marrow, and related phenotypes are hemolytic anemia and abnormality of immune system physiology

Major Symptoms of 5-Oxoprolinase Deficiency

5-oxoprolinase (5-OP) is a metabolic enzyme whose main function is to catalyze the conversion of 5-hydroxyindoleacetic acid (5-HIAA) into 5-hydroxyindoleacetic acid (5-HIDA), and participates in the synthesis of phenylalanine, Metabolism of histidine and serine. 5-OP deficiency leads to the accumulation of phenylalanine, histidine, and serine, causing diseases such as phenylketonuria (PKU). The main symptoms of 5-OP deficiency include:

1. Phenylketonuria (PKU): Patients develop phenylketonuria soon after birth, manifesting as mental retardation, psychoneurological symptoms, eczema, skin scratching signs, and depigmentation. And rat smell etc.

2. Skin symptoms: The patient's skin, hair and nails experience hyperkeratosis, resulting in dry, rough skin and prone to skin infection.

3. Nervous system symptoms: Patients may have mental retardation and psychoneurological symptoms, such as hypotonia, convulsions, epilepsy, etc.

4. Eye symptoms: Patients may experience nystagmus, strabismus, diplopia, amblyopia, etc.

5. Metabolic acidosis: Due to 5-OP deficiency, phenylalanine and 5-HIAA accumulate, causing a large amount of acidic substances in the body, leading to metabolic acidosis.

6. 5-OP deficiency in urine and sweat: Due to 5-OP deficiency leading to the accumulation of phenylalanine and 5-HIAA, the levels of 5-OP in urine and sweat are increased.

Suitable Lifestyle for People with 5-Oxoprolinase Deficiency

5-oxoprolinase (5-OP) deficiency is a rare genetic disorder that affects the metabolism of the amino acid proline. People with 5-OP deficiency may experience a range of symptoms, including muscle weakness, muscle pain, and joint pain. In terms of lifestyle, patients with 5-OP deficiency should follow a healthy and balanced diet that includes plenty of protein-rich foods, such as meats, fish, eggs, and legumes. It is also important for patients with 5-OP deficiency to take their medication as directed by their healthcare provider. In addition, they should try to maintain a healthy weight and exercise regularly to help manage any muscle weakness or pain. It is also recommended that patients with 5-OP deficiency seek out the advice of a healthcare professional as they navigate any challenges related to the condition.

Other Diseases

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