Behavioural effects of phenylalanine‐free amino acid tablet supplementation in intellectually disabled adults with untreated phenylketonuria

Kalkanoğlu, H. Serap; Ahring, Kirsten; Sertkaya, Durdu; Møller, Lisbeth Birk; Romstad, Anne; Mikkelsen, I.; Guldberg, Per; Lou, Hans C.; Güttler, Flemming

doi:10.1111/j.1651-2227.2005.tb02078.x

Cited by 27 publications

(16 citation statements)

References 16 publications

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“…Over the last 40 years, the efficacy of neonatal screening programmes for PKU in Poland, and worldwide, has been proven through the investigation of millions of newborns. In this study the 11 cases of previously untreated PKU adults were similar to 17 cases out of 975 residents reported in the region of Western Pomerania [9,10] . For Polish adults, average height for males is 174.1 8 11.9 cm and for females it is 160 8 9.9 cm; average weight for males is 76 8 18.5 kg and for females it is 62 8 17.3 kg; average head circumference for males is 57.1 8 2.6 cm and for females it is 54.9 8 2.6 cm; average chest circumference for males is 93.5 8 11.6 cm and for females it is 80.8 8 13.0 cm.…”

Section: Discussionsupporting

confidence: 60%

“…They underwent an assessment of their somatic development/status. Results: Among the 11 PKU patients (4 females and 7 males) the following characteristics were observed: poor physical growth after somatic development (n = 8, 2 females aged 23 and 56 years and 6 males aged 28-59 years); decreased head circumference -microcephaly (n = 5, 1 female aged 56 years and 4 males aged 28-59 years); poor body height (n = 2, 1 female aged 23 years and 1 male aged 59 years); poor tho-PKU [4][5][6][7][8][9] . While a large group of patients were born with various dysfunctions typical of untreated PKU prior to obligatory screening [10][11][12] , some significant symptoms develop late in life [13][14][15] .…”

Section: Introductionmentioning

confidence: 99%

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Evaluation of Somatic Development in Adult Patients with Previously Undiagnosed and/or Untreated Phenylketonuria

et al. 2009

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Objective: To evaluate physical growth, development and nutritional status in adults with previously undiagnosed/ untreated phenylketonuria (PKU). Methods: Four hundred adults (201 females and 199 males) with severe intellectual disability who were born prior to compulsory neonatal screening (before 1976) and who resided in social welfare homes in southeastern Poland were screened for PKU. The screening was performed by blood test using a tandem mass spectrometry method (MS/MS) and was confirmed by analysis of organic acids in urine. Eleven were identified as previously undiagnosed and/or untreated PKU cases. They underwent an assessment of their somatic development/status. Results: Among the 11 PKU patients (4 females and 7 males) the following characteristics were observed: poor physical growth after somatic development (n = 8, 2 females aged 23 and 56 years and 6 males aged 28–59 years); decreased head circumference – microcephaly (n = 5, 1 female aged 56 years and 4 males aged 28–59 years); poor body height (n = 2, 1 female aged 23 years and 1 male aged 59 years); poor thoracic circumference (n = 9, 3 females aged 23–56 years and 6 males aged 28–59 years). Overall, body weight imbalance was noted in 9 (81.8%) patients and irregularity of body proportions in 6 (54.5%) patients. Conclusion: Our data showedthe importance of nutritional surveillance and impact of metabolic imbalance on physical growth and body stature in untreated PKU patients. We therefore recommend an adequate and individually planned introduction of dietary intervention among that group of patients in order to ameliorate its nutritional status, general fitness and health.

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Section: Discussionsupporting

confidence: 60%

Section: Introductionmentioning

confidence: 99%

Evaluation of Somatic Development in Adult Patients with Previously Undiagnosed and/or Untreated Phenylketonuria

et al. 2009

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“…These patients should be actively sought out, as dietary management can improve their quality of life [43,44]. Care home staff should be encouraged to work with healthcare professionals in managing these patients.…”

Section: Methodsmentioning

confidence: 99%

Requirements for a minimum standard of care for phenylketonuria: the patients’ perspective

Hagedorn

Berkel²,

Hammerschmidt³

et al. 2013

Orphanet J Rare Dis

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Phenylketonuria (PKU, ORPHA716) is an inherited disorder that affects about one in every 10,000 children born in Europe. Early and continuous application of a modified diet is largely successful in preventing the devastating brain damage associated with untreated PKU. The management of PKU is inconsistent: there are few national guidelines, and these tend to be incomplete and implemented sporadically. In this article, the first-ever pan- European patient/carer perspective on optimal PKU care, the European Society for Phenylketonuria and Allied Disorders (E.S.PKU) proposes recommendations for a minimum standard of care for PKU, to underpin the development of new pan-European guideline for the management of PKU. New standards of best practice should guarantee equal access to screening, treatment and monitoring throughout Europe. Screening protocols and interpretation of screening results should be standardised. Experienced Centres of Expertise are required, in line with current European Union policy, to guarantee a defined standard of multidisciplinary treatment and care for all medical and social aspects of PKU. Women of childbearing age require especially intensive management, due to the risk of severe risks to the foetus conferred by uncontrolled PKU. All aspects of treatment should be reimbursed to ensure uniform access across Europe to guideline-driven, evidence-based care. The E.S.PKU urges PKU healthcare professionals caring for people with PKU to take the lead in developing evidence based guidelines on PKU, while continuing to play an active role in serving as the voice of patients and their families, whose lives are affected by the condition.

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“…Hereditary factors include phenylketonuria, 15 galactosemy, 16 Mowat-Wilson syndrome, 17 Tay-Sachs disease, 18 and glycogen deposit disease, among others. These …”

Section: Hereditary Factorsmentioning

confidence: 99%

Intellectual disability: definition, etiological factors, classification, diagnosis, treatment and prognosis

Katz¹,

Lazcano‐Ponce²

2008

Salud pública Méx

108

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Intellectual disability: definition, etiological factors, classification, diagnosis, treatment and prognosis.Salud Publica Mex 2008;50 suppl 2:S132-S141. AbstractEtiology and classification: Causal factors related with cognitive disability are multiples and can be classified as follows: Genetic, acquired (congenital and developmental), environmental and sociocultural. Likewise, in relation to the classification, cognitive disability has as a common denominator a subnormal intellectual functioning level; nevertheless, the extent to which an individual is unable to face the demands established by society for the individual's age group has brought about four degrees of severity: Mild, moderate, severe and profound. Diagnostic: The clinical history must put an emphasis on healthcare during the prenatal, perinatal and postnatal period and include the results of all previous studies, including a genealogical tree for at least three generations and an intentional search for family antecedents of mental delay, psychiatric illnesses and congenital abnormalities. The physical exam should focus on secondary abnormalities and congenital malformations, somatometric measurements and neurological and behavioral phenotype evaluations. If it is not feasible to establish a clinical diagnosis, it is necessary to conduct high-resolution cytogenetic studies in addition to metabolic clinical evaluations. In the next step, if no abnormal data are identified, submicroscopic chromosomal disorders are evaluated. Prognosis: Intellectual disability is not curable; and yet, the prognostic in general terms is good when using the emotional wellbeing of the individual as a parameter. Conclusions: Intellectual disability should be treated in a comprehensive manner. Nevertheless, currently, the fundamental task and perhaps the only one that applies is the detection of the limitation and abilities as a function ResumenEtiología y clasificación: múltiples factores causales están relacionados con la discapacidad cognoscitiva y pueden clasificarse de la siguiente manera: genéticos, adquiridos, (congénitos y de desarrollo), ambientales y socioculturales. Del mismo modo, en cuanto a la clasificación, la discapacidad cognoscitiva tiene como común denominador un nivel de funcionamiento intelectual por debajo de lo normal; sin embargo, la medida en que una persona es incapaz de afrontar las demandas establecidas por la sociedad para su grupo de edad ha dado origen a cuatro grados de severidad: ligera, moderada, severa y profunda. Diagnóstico: el historial clínico debe hacer énfasis en el cuidado de la salud durante el periodo prenatal, perinatal y postnatal e incluir los resultados de todos los estudios previos, incluyendo un árbol genealógico de al menos tres generaciones y una búsqueda intencional de antecedentes familiares de retraso mental, enfermedades psiquiátricas y anomalías congénitas. El examen físico debe concentrarse en anomalías secundarias y en malformaciones congénitas, mediciones somatométricas, y evaluaciones del fenotipo neurológico y ...

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Behavioural effects of phenylalanine‐free amino acid tablet supplementation in intellectually disabled adults with untreated phenylketonuria

Abstract: This pilot study suggests that Phe-free AA tablets enriched in tyrosine and tryptophan may improve the quality of life in some intellectually disabled adults with untreated PKU.

Cited by 27 publications

References 16 publications

Evaluation of Somatic Development in Adult Patients with Previously Undiagnosed and/or Untreated Phenylketonuria

Evaluation of Somatic Development in Adult Patients with Previously Undiagnosed and/or Untreated Phenylketonuria

Requirements for a minimum standard of care for phenylketonuria: the patients’ perspective

Intellectual disability: definition, etiological factors, classification, diagnosis, treatment and prognosis

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