Researchers presented the case study of a patient with infantile-onset Pompe disease (IOPD) who was treated with L-alanine supplementation and they published their results in the Italian Journal of Pediatrics.

The authors detailed the case of a 9-year-old child diagnosed with IOPD. An incidental finding of a heart murmur was detected when she was 1 month old, and a follow-up heart ultrasound revealed no abnormalities. She had a case of pneumonia and transaminase and she was treated with standard antibiotic therapy. However, some of her serum enzymes remained elevated: 

  • Aspartate transaminase up to 388 U/L 
  • Alanine transaminase up to 164 U/L
  • Creatine kinase up to 942 U/L 
  • Lactate dehydrogenase up to 4851 U/l 

Her electrocardiogram revealed left ventricular hypertrophy and her heart ultrasound revealed mild biventricular hypertrophy. At 1 month old, the patient was admitted for hypotonia, hyporeflexia, and mild tongue protrusion.

Continue Reading

Pompe disease was suspected, and molecular GAA gene analysis confirmed compound heterozygous is for 2 previously described variants. Enzyme replacement therapy (ERT) was initiated and cardiac hypertrophy was resolved after 8 months. Her physicians monitored her antibody status and seroconversion was achieved after 6 months, and she was prescribed a high protein diet by her nutritionists.

Read more about Pompe disease prognosis

Despite the commencement of ERT, slowly progressive myopathy developed, resulting in some walking difficulties, respiratory problems, and oropharyngeal dysphagia. Her physicians decided to start her on L-alanine oral supplementation after taking into careful consideration her physical condition. The supplement was administered as a powder mixed into a drink.

Although indices of muscle damage remain and exact changes are difficult to objectify, her physicians reported that the patient “is now reducing the need of walking supports, she’s capable of standing and walking alone and can now sleep without any pillows.” 

The rationale for starting the patient with L-alanine supplementation was to increase the pool of amino acids with the intended purpose of making up for proteolysis and slowing down the progression of muscular damage. However, the role of L-alanine supplementation has not been conclusively linked to improvements in clinical outcomes in patients with Pompe disease.

“Longer time-periods of [L-alanine oral supplementation] and studies on larger numbers of patients are needed to confirm and ensure our results and to fix optimal dosage to be used, but we expect that they could highlight even more significant clinical changes,” the authors said.


Rovelli V, Zuvadelli J, Piotto M, et al. L-alanine supplementation in Pompe disease (IOPD): a potential therapeutic implementation for patients on ERT? A case reportItal J Pediatr. 2022;48(1):48. doi:10.1186/s13052-022-01249-y