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Weight Management In Phenylketonuria: What Should Be Monitored?
(Karger, 2016)
Background: Severe intellectual disability and growth impairment have been overcome by the success of early and continuous treatment of patients with phenylketonuria (PKU). However, there are some reports of obesity, ...
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency: A Case Report And Literature Review
(Aran Ediciones, S L, 2018)
Introduction: 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase deficiency is an autosomal recessive disorder that usually presents in the neonatal period with vomiting, metabolic acidosis, hypoglycemia and absent ketonuria. ...
Adjusting Diet With Sapropterin In Phenylketonuria: What Factors Should Be Considered?
(Cambridge Univ Press, 2011)
The usual treatment for phenylketonuria (PKU) is a phenylalanine-restricted diet. Following this diet is challenging, and long-term adherence (and hence metabolic control) is commonly poor. Patients with PKU (usually, but ...