Neuropathology of a 4‐month‐old infant born to a woman with phenylketonuria

Koch, Richard; Verma, Suman; Gilles, Floyd H.

doi:10.1111/j.1469-8749.2008.02028.x

Cited by 13 publications

(6 citation statements)

References 30 publications

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“…Disturbances of myelination in PKU patients were originally reported in the 1950s (Alvord Jr., Stevenson, Vogel, & Engle Jr., 1950;Poser & Van Bogaert, 1959). Since then, alterations in the integrity of the cerebral white matter were described in PKU patients or in their offspring (Koch, Verma, & Gilles, 2008;Nardecchia et al, 2015;Peng, Peck, White, & Christ, 2014;Tufekcioglu et al, 2016), although alterations in the gray matter have been also detected (Bodner et al, 2012;Christ et al, 2016). The white matter pathology observed in PKU patients is diffuse throughout the brain and worsens with age, and it seems to participate in the decline of executive functions due to non-adherence to the treatment (Hawks et al, 2019).…”

Section: Cn S Demyelinati On In Pkumentioning

confidence: 99%

White matter disturbances in phenylketonuria: Possible underlying mechanisms

Ferreira

Rodrigues

Streck

et al. 2020

J of Neuroscience Research

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White matter pathologies, as well as intellectual disability, microcephaly, and other central nervous system injuries, are clinical traits commonly ascribed to classic phenylketonuria (PKU). PKU is an inherited metabolic disease elicited by the deficiency of phenylalanine hydroxylase. Accumulation of l‐phenylalanine (Phe) and its metabolites is found in tissues and body fluids in phenylketonuric patients. In order to mitigate the clinical findings, rigorous dietary Phe restriction constitutes the core of therapeutic management in PKU. Myelination is the process whereby the oligodendrocytes wrap myelin sheaths around the axons, supporting the conduction of action potentials. White matter injuries are implicated in the brain damage related to PKU, especially in untreated or poorly treated patients. The present review summarizes evidence toward putative mechanisms driving the white matter pathology in PKU patients.

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Section: Cn S Demyelinati On In Pkumentioning

confidence: 99%

White matter disturbances in phenylketonuria: Possible underlying mechanisms

Ferreira

Rodrigues

Streck

et al. 2020

J of Neuroscience Research

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“…The supratentorial brain white matter is known to be primarily involved in phenylketonuria as has already been extensively reported in children, adolescents, and adults with PKU [3][4][5]14], even in patients with an early strict dietary control. Interestingly, in a recent paper, Koch and coworkers reported delay of myelination (all lobes), at autopsy, in a 4-month-old boy born to a woman with maternal PKU and high Phe levels during pregnancy [15], thus underlying the link between high blood levels of Phe and white matter involvement.…”

Section: Wmas and Plasma Levels Of Phenylalanine And Tyrosinementioning

confidence: 98%

Brain MRI diffusion-weighted imaging in patients with classical phenylketonuria

et al. 2009

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“…Koch and coworkers reported delay of myelination (all lobes), at autopsy, in a 4-month-old boy born to a woman with maternal PKU and high PA levels during pregnancy 20 , thus underlying the link between high blood levels of PA and white matter involvement. MRI abnormalities in our patients' group were an increased signal in T2-weighted images and cortical atrophy.…”

Section: Discussionmentioning

confidence: 98%

Geç tanı konulan 38 klasik fenilketonurili hastanın nörolojik açıdan değerlendirilmesi

Haytoğlu¹,

Hergüner²,

Soyupak³

et al. 2016

Cukurova Med J

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AbstractÖz Purpose: We investigated the neurological outcome of 38 late-diagnosed phenylketonuria patients with magnetic resonance imaging (MRI), electroencephalography (EEG), visual evoked potentials (VEP), intelligence quotients (IQ) and examined the correlation of these parameters with the age and the plasma phenylalanine levels of patients at diagnosis. Material and Methods: Thirty-eight late-diagnosed classic phenylketonuria patients were enrolled in the study. Plasma phenylalanine levels were measured by spectrofluorometric method. MRI was evaluated by a pediatric neuroradiologist. Ankara developmental screening inventory (ADSI) and Wechsler intelligence scale for Turkish children (WISC-R) test were performed to detect IQ scores. Porteus Mazo test adapted for Turkish children intelligence test were performed to all children. The EEG of all patients were recorded. VEP was used to measure the electrical activity in the brain to visual stimulus. Results: The high plasma phenylalanine levels and latediagnosis were associated with low IQ scores, pathological EEG, and pathological VEP patterns. High PA levels were also associated with more serious white matter signal abnormalities. Conclusion: Our results demonstrated the impact of early diagnosis and low levels of phenylalanine at diagnosis on the intellectual, neurological development and visual outcomes.Amaç: Geç tanı alan fenilketonuri hastalarında manyetik rezonans görüntüleme (MRG), elektroensefalografi (EEG), uyarılmış görsel potansiyeller (VEP) ve zeka katsayısı ile nörolojik açıdan etkilenme ve bu parametrelerin tanı yaşı ve kan fenilalanin düzeyi ile korelasyonu araştırıldı. Gereç ve Yöntem: Çukurova Üniversitesi Tıp Fakültesi, Çocuk Metabolizma ve Beslenme Bilim Dalında başvuran geç tanı almış 38 klasik fenilketonurili hasta çalışmaya alındı. Kan fenilalanin düzeyleri spektroflorometrik yöntem ile ölçüldü. Ankara gelişim tarama envanteri (AGTE), Türk çocuklarına göre uyarlanmış Wechesler zeka testi (WISC-R) yaş gruplarına uygun olarak yapıldı. Tüm çocuklara Türk çocuklarına göre uyarlanmış Porteus Maze zeka testi uygulandı. Tüm çocuklara EEG kaydı yapıldı. Merkezi sinir sisteminin görsel uyaranlara verdiği yanıt VEP ile değerlendirildi. MRG ile santral sinir sistemi bulguları incelendi. Bulgular: Yüksek plazma fenilalanin düzeyi ve geç tanı, düşük zeka katsayısı, patolojik EEG, patolojik VEP ile ilişkili bulundu. Yüksek fenilalanin düzeyi ciddi beyaz cevher sinyal değişiklikleri ile ilişkiliydi. Sonuç: Çalışmamız erken tanının ve tanı anındaki düşük kan fenilalanin düzeyinin entellektüel , nörolojik gelişim ve görme üzerine olan etkisini göstermiştir.

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Neuropathology of a 4‐month‐old infant born to a woman with phenylketonuria

Cited by 13 publications

References 30 publications

White matter disturbances in phenylketonuria: Possible underlying mechanisms

White matter disturbances in phenylketonuria: Possible underlying mechanisms

Brain MRI diffusion-weighted imaging in patients with classical phenylketonuria

Geç tanı konulan 38 klasik fenilketonurili hastanın nörolojik açıdan değerlendirilmesi

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