Treatment in a multidisciplinary team is preferable, to address the different manifestations of PREPLdeficiency. At least, a pediatric neurologist, a dietician, a physiotherapist and a pediatric endocrinologist should be involved. A speech therapist and a psychologist should also be available.
• Hypotonia and weakness:physiotherapy is typically started early to stimulate progress in reaching motor milestones. Drug treatment with pyridostigmine has been reported as beneficial for the hypotonia in the first two years of life in individual cases, but after this age typically is not effective.
• Feeding problems: the feeding problems in the neonatal period often necessitate tube feeding, in coordination with a dietician and a speech therapist.
• Dysarthria:a speech therapist is important for guidance concerning the dysarthria that is often observed.
• Cognitive development: developmental progress should be monitored and formally tested, and developmental support or special education offered when appropriate.
• Growth and weight:growth and weight should be monitored, and when growth starts to slow down, growth hormone stimulation testing should be performed by a pediatric endocrinologist to identify growth hormone deficiency. When present, growth hormone deficiency can be treated with growth hormone supplementation. As hypergonadotrophic hypogonadism is frequently observed, this should be evaluated by a pediatric endocrinologist. When children start to become overweight, dietary advise is helpful to maintain a normal weight for height.
• Cardiac ultrasound may be useful, as cardiac abnormalities have been reported in individual patients.
• When PREPLdeficiency occurs as part of the hypotonia-cystinuria syndrome, due to a combined deletion of PREPLand SLC3A1on both alleles, treatment for cystinuria (increased fluid intake, alkalinisation of the urine, chelating agents, …) should be initiated to avoid the occurrence of nephrolithiasis.
PREPL