A Case Report Of Hyperprolineemia And Literature Review

Objective: To analyze the clinical manifestations,diagnose,treatment and prognosis of children with hyperprolineemia type I caused by PRODH gene mutation,to improve clinicians’ knowledge of the disease.Methods: A detailed analysis of the clinical manifestations,auxiliary examinations,diagnosis and treatment of a child with PRODH gene mutation epilepsy admitted to our hospital,and a review of related literature.Results: The child presented with the main complaint of "intermittent convulsions for more than 7 months and fever for 4 days".Combining the child’s past and hospital admission examinations,considering the presence of "Epilepsy,Acute upper respiratory tract infection,and Hirschsprung’s postoperative",after comprehensive treatment such as anti-infection,anti-epileptic,and nutritional nervesthe,The child did not have fever or convulsions.He was hospitalized for 10 days and was discharged.After discharge,he continued to take levetiracetam combined with sodium valproate for anti-epileptic treatment.Regular follow-up visits in the outpatient clinic of our hospital to monitor the serum concentration of valproic acid Monitoring liver and kidney function,etc.,there are still intermittent convulsions.Consider the children taking anti-epileptic drugs,and there are still intermittent convulsions,and the hematuria metabolism screening indicates that proline is increased.It is recommended to complete genetic testing.After obtaining the consent of the family members,the parents and the patient Infant ’ s venous blood was sent to a genetic testing company for neurological-related gene testing,suggesting that there is a mutation in the PRODH gene,combined with elevated proline and a mutation in the PRODH gene,the gene phenotype has hyperprolineemia type I,consider There is "hyperprolineemia type I".At present,the etiology of epilepsy in children is clearly diagnosed,and the oral antiepileptic drugs are continued.Outpatient regular follow-up visits to monitor serum drug concentration,liver and kidney function,and mental motor development.Conclusions: 1.Hyperprolinemia is often found in children with neurological symptoms,such as epilepsy,or mental and motor development backwardness.2.The I type of hyperprolineemia is due to PRODH gene mutation,which leads to the decrease or loss of its encoded POX enzyme activity,which leads to the non-degradation of proline.For children with elevated proline,gene analysis should be improved actively.3.There is no specific treatment for hyperprolinemia,and symptomatic treatment is still the main treatment.4.It is particularly important for children with confirmed hyperprolin eemia to follow up later.The growth and development level should be followed up regularly.