Neurological deterioration in young adults with phenylketonuria

Thompson, Alan J.; Youl, Bryan; Kendall, B. E.; Lees, A. J.; Smith, I.; Brenton, D. P.; Rylance, G; Davidson, Dc

doi:10.1016/0140-6736(90)93401-a

Cited by 193 publications

(115 citation statements)

References 22 publications

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“…The latter may be the consequence of a central dopamine depletion. In addition, neurologic deterioration was described in some adult patients who stopped their diet for more than 10 y (17).…”

mentioning

confidence: 99%

Normal Clinical Outcome in Untreated Subjects with Mild Hyperphenylalaninemia

et al. 2001

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confidence: 99%

Normal Clinical Outcome in Untreated Subjects with Mild Hyperphenylalaninemia

et al. 2001

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“…Hand tremor is present in a third of those afflicted with late diagnosis, and generalized dystonia has also been reported (Brenton and Pietz 2000;Paine 1957). Late motor and cognitive decline may occur in adults who have relaxed their diet (Brenton and Pietz 2000;Thompson et al 1990). The clinical deterioration is often reversible on resumption of dietary therapy (Thompson et al 1990).…”

Section: Discussionmentioning

confidence: 99%

“…Late motor and cognitive decline may occur in adults who have relaxed their diet (Brenton and Pietz 2000;Thompson et al 1990). The clinical deterioration is often reversible on resumption of dietary therapy (Thompson et al 1990).…”

Section: Discussionmentioning

confidence: 99%

Parkinsonism in Phenylketonuria: A Consequence of Dopamine Depletion?

et al. 2014

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Phenylketonuria (PKU) is caused by a deficiency or inactivity of the enzyme phenylalanine hydroxylase that converts phenylalanine (Phe) to tyrosine (Tyr). It has been proposed that a reduction of brain Tyr levels, as well as reduced activity of the key regulatory enzyme of dopamine (DA) synthesis tyrosine hydroxylase, leads to a depletion in DA activity in patients with PKU. We report a case of a 56-year-old woman with an intellectual disability due to late diagnosis of PKU and parkinsonism, with a modest clinical response to levodopa therapy.We hypothesize that the signs of parkinsonism might be caused by the depletion of DA activity in the brain. Clinicians should be alert on parkinsonian symptoms in patients with PKU, particularly in those treated with agents that negatively influence DA transmission.

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“…The relationship between good phe control and intelligence in PKU is well established (Burgard, 2000), and early and strict treatment is the most effective means of optimising the neurological outcome. However, even in patients who are well controlled during childhood, neurological deterioration has been observed (Villasana et al, 1989;Thompson et al, 1990;Cleary et al, 1994;Weglage et al, 1995) and children with PKU have, on average, an IQ score that is 0.5 s.d. less than the general population (Smith et al, 1991).…”

Section: Discussionmentioning

confidence: 99%

Randomised controlled trial of essential fatty acid supplementation in phenylketonuria

et al. 2006

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Objective: The long-chain polyunsaturated fatty acids (LC-PUFA) status of children with PKU is often compromised. LC-PUFA, which are important fatty acids in the development of the CNS, can be synthesised endogenously from the parent essential fatty acids (EFA) provided dietary intakes are adequate. This study was designed to assess the biochemical effect over a 20-week period of a phe-free protein substitute that has been supplemented with a balanced blend of n-3 and n-6 EFAs on LC-PUFA status of children with PKU. Design, setting and subjects: Fifty three community-living children aged 1-10 years diagnosed with PKU in the newborn period were recruited from seven tertiary centres in the UK and France and randomised to a fat-free control formula or the EFAsupplemented test-treatment formula in an open, prospective study. Forty four children completed the study (20 controls, 24 test-treatments). Fatty acid status was assessed at entry and 20-weeks follow-up. Three day dietary diaries were recorded at 20 weeks' follow-up. The safety, efficacy and palatability of the test-treatment formula were also assessed. Results: The test-treatment group had significantly higher intakes of fat and EFA than the control group. There was a significant between group difference (P ¼ 0.04) in increases in median docosahexaenoic acid (DHA) concentrations in erythrocyte phospholipids, which increased by 19% in the test-treatment group and by 0.5% in the control group over the study period. Growth and phe control were satisfactory in all subjects. Conclusions: Supplementing the diets of children with PKU with a balanced blend of n-6 and n-3 EFA improves DHA status without compromising AA status.

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Neurological deterioration in young adults with phenylketonuria

Cited by 193 publications

References 22 publications

Normal Clinical Outcome in Untreated Subjects with Mild Hyperphenylalaninemia

Normal Clinical Outcome in Untreated Subjects with Mild Hyperphenylalaninemia

Parkinsonism in Phenylketonuria: A Consequence of Dopamine Depletion?

Randomised controlled trial of essential fatty acid supplementation in phenylketonuria

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