Research: Inherited Metabolic Diseases in Neurodevelopmental and Neurobehavioral Disorders

Authored by Kayser, Ma in Seminars in Pediatric Neurology, Volume 15, Issue 3, p. 127-131, (2008).

Article summary (posted Nov 12, 2008):

High protein diets and creatine monohydrate may help some children who have inborn errors of metabolism that result in autism.

This paper reviews autism that is caused by problems in getting energy to the brain (inborn errors of metabolism). Inborn errors of metabolism can include problems with creatine biosynthesis, gamma-aminobutyric acid catabolism, purine and pyrimidine metabolism, and glucose transport across the blood-brain barrier. Creatine biosynthesis problems may be treated with store-bought creatine monohydrate. Patients with glucose transport problems may be treated with the high protein, low sugar ketogenic diet. Other inborn errors of metabolism are harder to treat.

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autism, creatine, diet, energy, gamma-aminobutyric acid (GABA), gastrointestinal (GI) tract, inborn error of metabolism, ketogenic diet, metabolism, pediatric, protein
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