Phenylketonuria is still a major cause of mental retardation in Tunisia despite the possibility of treatment

Khemir, Sameh; Asmi, Monia El; Sanhaji, Haïfa; Feki, Moncef; Jemaa, Riadh; Tebib, Néji; Dhondt, Jean; Dridi, M. F. Ben; Mebazaa, Abderraouf; Kaabachi, Naziha

doi:10.1016/j.clineuro.2011.07.016

Cited by 27 publications

(20 citation statements)

References 12 publications

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“…The disease was more common in boys than girls (62.5% versus 37.5%). The mean age of the studied patients was 3.37 years and this correlates with the study done in Tunisia by Khemir et al [17], to evaluate the role of phenylketonuria in mental retardation. They found that, the PKU estimated frequency was 1/7631 in mentally retarded children with a mean age of 4 years.…”

Section: Discussionsupporting

confidence: 51%

“…In our series, 50% of cases had classic PKU and the dominant clinical manifestations were global developmental delay, hyperactivity symptoms, autistic features, and seizures while in the Tunisian study [17], the classical PKU form accounted for 85.3% of cases and the dominant clinical symptoms were: mental retardation (88.2%), motor delays (87.7%), speech difficulties (83.2%) and pigmentation anomalies (61.7%).…”

Section: Discussionmentioning

confidence: 90%

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Clinicolaboratory profile of phenylketonuria (PKU) in Sohag University Hospital-Upper Egypt

Sadek

Emam

Alhaggagy

2013

Egyptian Journal of Medical Human Genetics

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Phenylketonuria (PKU) is an autosomal recessive metabolic genetic disorder characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH). The disease may present clinically with seizures, albinism (excessively fair hair and skin), and a ''musty odor'' to the baby's sweat and urine. In the untreated classic case, mental retardation is severe, precluding speech and toilet training. Seizures are common in the more severely retarded, usually start before 18 months of age. This study aimed to identify clinical profile and impacts of newly diagnosed (untreated) PKU on children. Children presented to the Pediatric Department, or Pediatric Neurology Clinic, Sohag University Hospital in whom the diagnosis of Pheylketonuria was established based on measuring phenylalanine level in blood samples were eligible for this study. All studied patients were subjected to thorough history, full examination, and developmental assessment. Electroencephalography (EEG), computed tomography of the brain (CT), phoniatric and audiologic evaluations were also done. During the period of the study we diagnosed 24 cases with phenylketonuria, the main clinical presentations were global developmental delay, hyperactive symptoms, seizures, and autistic features. CT of the brain showed that 58.3% of cases had atrophic changes. EEG showed that 58.3% of cases had abnormal findings as generalized epileptic discharges, focal epileptic discharges, and hypsarrhythmia. We concluded that untreated phenylketonuria still represents a significant burden on children development and mental function in Upper Egypt. So we recommend establishment of national screening programs and pushing it forward as well as immediate development of specific metabolic centers in various universities and research institutes.Ó 2013 Production and hosting by Elsevier B.V. on behalf of Ain Shams University.

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Section: Discussionsupporting

confidence: 51%

Section: Discussionmentioning

confidence: 90%

Clinicolaboratory profile of phenylketonuria (PKU) in Sohag University Hospital-Upper Egypt

Sadek

Emam

Alhaggagy

2013

Egyptian Journal of Medical Human Genetics

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“…Tunisia, Lebanon, Syria), which have not introduced the newborn screening for PKU. These reports clearly show that PKU is one of the most common preventable causes of mental retardation [10][11][12]. Furthermore, the introduction of the newborn screening for PKU is a cost-effective practice also in a developing country [13].…”

Section: Phenylketonuria Newborn Screening In Developing Countriesmentioning

confidence: 98%

Fifty years of phenylketonuria newborn screening — A great success for many, but what about the rest?

Grošelj

Tanšek

Battelino

2014

Molecular Genetics and Metabolism

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“…Nevertheless, there may be a need for commencing dietary restriction should the epileptic control detoriate in the index case, though the evidence is still lacking. 16 Thirdly, PKU is still a leading cause of mental retardation in some countries 17 and its possibility needs to be contemplated in patients from countries with non-availability of newborn screening programmes. And lastly, the lack of awareness on inherited errors of metabolism (IEM) disorders has been suggested a likely cause for their under diagnosis in adult patients.…”

Section: Discussionmentioning

confidence: 99%

Delayed diagnosis of phenylketonuria – a case report of two siblings

et al. 2013

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Phenylketonuria (PKU), is an autosomal recessive condition affecting the amino acid metabolism. The UK National newborn screening programme was commenced in 1969 and PKU is one among the five conditions included in the screening programme. We present the case history of two siblings of a family with a delayed diagnosis of PKU. This case history highlights such an occurrence. PKU should be considered as an important differential in the diagnosis of adult patients with learning difficulties, seizures and behavioural problems. It would be prudent to instigate plasma and urine amino/organic acid analyses in adult patients with unexplained neuropsychological manifestations.

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Phenylketonuria is still a major cause of mental retardation in Tunisia despite the possibility of treatment

Cited by 27 publications

References 12 publications

Clinicolaboratory profile of phenylketonuria (PKU) in Sohag University Hospital-Upper Egypt

Clinicolaboratory profile of phenylketonuria (PKU) in Sohag University Hospital-Upper Egypt

Fifty years of phenylketonuria newborn screening — A great success for many, but what about the rest?

Delayed diagnosis of phenylketonuria – a case report of two siblings

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