Bibliographic Details
| Title: |
A new phenotype of aldolase a deficiency in a 14 year-old boy with epilepsy and rhabdomyolysis – case report. |
| Authors: |
Santoro, Lucia, Pjetraj, Dorina, Velmishi, Virtut, Campana, Carmen, Catassi, Carlo, Dionisi-Vici, Carlo, Maiorana, Arianna |
| Source: |
Italian Journal of Pediatrics; 3/4/2022, Vol. 48 Issue 1, p1-5, 5p |
| Subject Terms: |
EPILEPSY prevention, ANTICONVULSANTS, KETOGENIC diet, RHABDOMYOLYSIS, SKELETAL muscle, NEURONS, LYASES, TREATMENT effectiveness, GLYCOGEN storage disease, SEIZURES (Medicine), PATIENT compliance, PHENOTYPES, ADOLESCENCE |
| Abstract: |
Background: Glycogen storage disease type XII is a rare metabolic disease resulting from Aldolase A deficiency that causes muscle glycogen accumulation, with crisis of rhabdomyolysis and hemolytic anemia. In the very few cases described, rhabdomyolysis crises are caused by fever and/or exercise and can accompany acute hemolytic anemia. Although currently there is no therapy available for this disease, the guidelines for the management of other forms of glycogen storage diseases recommend a nutritional therapy in order to avoid hypoglycemia or prevent exercise-induced rhabdomyolysis. Case presentation: In this case report we describe a new phenotype of the disease in a 14-year-old boy, characterized by seizures and rhabdomyolysis. Beside an antiepileptic treatment, we propose a new therapeutic approach based on ketogenic diet in order to supply an energetic substrate for skeletal muscle and neurons. Conclusions: The anti-epileptic therapy and the dietetic approach were well tolerated by the patient who showed good compliance. This led to a deceleration of the disease with no other acute episodes of seizures and rhabdomyolysis, without any side effects observed. [ABSTRACT FROM AUTHOR] |
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| Database: |
Complementary Index |
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