Agoraphobia in phenylketonuria

Waisbren, Susan E.; Levy, Harvey L.

doi:10.1007/bf01799946

Cited by 53 publications

(29 citation statements)

References 28 publications

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“…While intellectual disability does not occur in patients who are well controlled in infancy and childhood, a variety of adverse neurocognitive and psychiatric outcomes, including deficits in executive functioning and psychiatric symptoms such as anxiety, depression, and phobias can develop later in life when there is relaxation of PHE control. [44][45][46][47][48][49] These later effects can be disabling and can result in a lower overall level of educational attainment and socioeconomic status. 50,51 Furthermore, these symptoms make it increasingly difficult for a patient with PAH deficiency to return to metabolic control, since adherence to treatment requires tasks such as planning and organization that rely on intact executive functioning abilities.…”

Section: Treatment For Lifementioning

confidence: 99%

Phenylalanine hydroxylase deficiency: diagnosis and management guideline

Vockley

Andersson

Antshel

et al. 2014

Genetics in Medicine

529

443

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Phenylalanine hydroxylase (PAH) deficiency, traditionally called phenylketonuria (PKU) due to characteristic phenylketones accumulating in the urine of affected individuals, has a significant place in history as the first inborn error of metabolism identified through population-based screening, initiating a new era in the diagnosis and treatment of genetic disorders. PKU was first described in 1934 by the Norwegian physician Asbjörn Fölling, but it was not until the mid-1950s that a patient with PAH deficiency was treated with a low phenylalanine (PHE) diet. Although this first patient already had irreversible Phenylalanine hydroxylase deficiency, traditionally known as phenylketonuria, results in the accumulation of phenylalanine in the blood of affected individuals and was the first inborn error of metabolism to be identified through population screening. Early identification and treatment prevent the most dramatic clinical sequelae of the disorder, but new neurodevelopmental and psychological problems have emerged in individuals treated from birth. The additional unanticipated recognition of a toxic effect of elevated maternal phenylalanine on fetal development has added to a general call in the field for treatment for life. Two major conferences sponsored by the National Institutes of Health held >10 years apart reviewed the state of knowledge in the field of phenylalanine hydroxylase deficiency, but there are no generally accepted recommendations for therapy. The purpose of this guideline is to review the strength of the medical literature relative to the treatment of phenylalanine hydroxylase deficiency and to develop recommendations for diagnosis and therapy of this disorder. Evidence review from the original National Institutes of Health consensus conference and a recent update by the Agency for Healthcare Research and Quality was used to address key questions in the diagnosis and treatment of phenylalanine hydroxylase deficiency by a working group established by the American College of Medical Genetics and Genomics. The group met by phone and in person over the course of a year to review these reports, develop recommendations, and identify key gaps in our knowledge of this disorder.Above all, treatment of phenylalanine hydroxylase deficiency must be life long, with a goal of maintaining blood phenylalanine in the range of 120-360 µmol/l. Treatment has predominantly been dietary manipulation, and use of low protein and phenylalanine medical foods is likely to remain a major component of therapy for the immediate future. Pharmacotherapy for phenylalanine hydroxylase deficiency is in early stages with one approved medication (sapropterin, a derivative of the natural cofactor of phenylalanine hydroxylase) and others under development. Eventually, treatment of phenylalanine hydroxylase deficiency will be individualized with multiple medications and alternative medical foods available to tailor therapy. The primary goal of therapy should be to lower blood phenylalanine, and any interventions, including medica...

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Section: Treatment For Lifementioning

confidence: 99%

Phenylalanine hydroxylase deficiency: diagnosis and management guideline

Vockley

Andersson

Antshel

et al. 2014

Genetics in Medicine

529

443

View full text Add to dashboard Cite

show abstract

“…16,60 One study, noting symptoms of agoraphobia along with depression and anxiety, reported a relationship of symptoms with Phe levels and dietary treatment adherence; resolution of symptoms may occur with reinstated treatment that leads to improvement in metabolic control. 61 …”

Section: Cognitive and Psychiatric Symptoms Of Pku Cognitivementioning

confidence: 97%

A Neuropsychiatric Perspective of Phenylketonuria I: Overview of Phenylketonuria and Its Neuropsychiatric Sequelae

Bone

Kuehl²,

Angelino

2012

Psychosomatics

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“…Por ejemplo, Waisbren y Levy [88] describieron la agorafobia como complicación potencial de la FCU en adultos jóvenes que no seguían dieta. Hallaron que el 20% de las mujeres adultas con FCU presentaban puntuaciones elevadas en una escala de agorafobia, en comparación con el 9% de sus conocidas indemnes y el 6% de mujeres con diabetes.…”

Section: Conducta Y Psicopatologíaunclassified

Función neuropsicológica en la fenilcetonuria tratada precozmente: Una revisión

Crossley¹,

Anderson²

2010

Ann Nestlé [Esp]

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La fenilcetonuria (FCU) es un error metabólico congénito que implica una deficiencia de la enzima fenilalanina hidroxilasa. Este proceso da lugar a niveles elevados de fenilalanina y niveles bajos de tirosina. Si no se administra tratamiento aparecen graves secuelas neuropatológicas y neuroconductuales. La puesta en práctica de la detección sistemática de recién nacidos y el tratamiento dietético precoz ha reducido significativamente esta morbilidad. A pesar de una función intelectual general relativamente conservada, en los pacientes con FCU tratados precozmente se detectan todavía sutiles deficiencias cognitivas y conductuales. Este trabajo aporta una revisión de los datos del deterioro de la elaboración de información, la función ejecutiva, la memoria, el aprendizaje, el aprovechamiento escolar y la conducta. En este trabajo también revisamos las dos teorías principales propuestas hasta la fecha en relación con los mecanismos subyacentes de las deficiencias cognitivas y conductuales halladas en pacientes con FCU tratados, concretamente la disfunción prefrontal y las anomalías de la sustancia blanca. Aunque es necesario ampliar la investigación, la literatura disponible hasta la fecha da a entender que los pacientes afectados de FCU tratados precozmente presentan un riesgo de deficiencias neuroconductuales insidiosas en toda una gama de dominios neuropsicológicos. Por lo tanto, los pacientes con FCU tienen que ser monitorizados minuciosamente para detectar precozmente estos problemas y aplicar intervenciones apropiadas capaces de asegurar que estos pacientes alcancen su pleno potencial.

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Agoraphobia in phenylketonuria

Cited by 53 publications

References 28 publications

Phenylalanine hydroxylase deficiency: diagnosis and management guideline

Phenylalanine hydroxylase deficiency: diagnosis and management guideline

A Neuropsychiatric Perspective of Phenylketonuria I: Overview of Phenylketonuria and Its Neuropsychiatric Sequelae

Función neuropsicológica en la fenilcetonuria tratada precozmente: Una revisión

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