A case of 6‐pyruvoyl‐tetrahydropterin synthase deficiency after screening 1 500 000 newborns in Greece

Schulpis, K. H.; Covanis, Athanasios; Loumakou, Maria; Frantzis, N.; Papandreou, Ourania; Divolli, A.; Missiou-Tsagaraki, S.; Kierat, L.; Blau, Nenad

doi:10.1007/bf01799967

Cited by 3 publications

(3 citation statements)

References 3 publications

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“…This prevalence of 1 in 9000 is higher than what was reported by other groups. However, increases in the number of diagnosed cases over time have been reported (Bhatt et al, 2008;Choudhuri et al, 2006;Kumta, 2005;Imamura et al, 1999;Schulpis et al, 1991;Wuu et al, 1988). This may be attributed to advances in diagnostic technology, better coverage and reporting, and increased awareness.…”

Section: Discussionmentioning

confidence: 99%

Phenylketonuria in Sohag : A Preliminary Study

Oriquat¹,

Saleem²,

Ahmed³

2013

JJBS

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Phenylketonuria (PKU) is one of the commonest inborn error of metabolism, it is an autosomal recessive metabolic genetic disorder characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional. The diagnosis of this disorder can be confirmed by analysis of urine components. The present study aimed to assess the prevalence of PKU among children aged 6 months to 6 years in Sohag governorate Egypt, its relationship to malnutrition and identifying families with higher predisposition to having children with inborn errors of metabolism. One hundred children were selected from 18,000 patients seen in the pediatric neuropsychiatry clinic of Sohag University hospital over three years, between May 2008-May 2011. They were presented with clinical symptoms suggestive of probable preliminary diagnosis of PKU. Proper clinical and laboratory investigations, including ferric chloride test in urine, total protein and albumin in serum, were screened to confirm the diagnosis. PKU was diagnosed in two children cases. The diagnosed cases were suffering from mild malnutrition represented by low levels of serum albumin and total protein comparable to cases of Marasmus and kwashiorkor or other deficiencies like rickets. Screening of the newborn with special emphasis on PKU is highly recommended before discharge from the nursery for children delivered in the hospital or on first visit to the clinic for children delivered at home. Early detection would help prevent serious and permanent neurological impairment.

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Section: Discussionmentioning

confidence: 99%

Phenylketonuria in Sohag : A Preliminary Study

Oriquat¹,

Saleem²,

Ahmed³

2013

JJBS

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“…Table II provides a breakdown of the different components of the literature search. Liappas et al 2003;Prendergast et al 2003;Abel 1999;Nencini 1997;Barry 1968;Anonymous 1967Tsakaris et al 2001Daikos et al 2003Kyriazanos et al 2001Xeropotamos et al 2002Chaidemenos et al 2002Tsankov et al 2000Kaklamani et al 1999Blekas et al 2002Kourkoutas et al 2001Schulpis et al 1991 In addition, a quality assurance element was built into the review process. To be included in the final review, papers had to meet the criteria presented in Table III based upon Cormack (1996).…”

Section: Methodsmentioning

confidence: 99%

A review of tobacco and alcohol use literature in the native and migrant Greek community

Foster¹,

Papadopoulos

Dadzie³

et al. 2007

Journal of Substance Use

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Substance use in Greece is marked by the frequent consumption of both alcohol and tobacco. However, the problems observed in the United Kingdom related to binge drinking are largely absent. To provide insight into this difference, a comprehensive literature review of the tobacco and alcohol use behaviours within Greek host and migrant communities was conducted. To our knowledge this is the first attempt at synthesizing previous literature on this subject. A search of various research databases returned a total of 200 articles, of which 98 were used. A quality assurance element was also built into the review process. The review confirms high levels of tobacco use and consistent use of alcohol by both the younger and general population. There is little evidence of a binge drinking culture but, alcohol related road-traffic accidents remain a significant problem. The authors postulate that alcohol use is not regarded as an adult behaviour to be envied and is, therefore, not a stimulus for rebellion, but rather an act that is socially normal and unremarkable.

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“…Conversely, patients with the "atypical" form of PTPS deficiency may appear normal in infancy but display phenotypic changes with increasing age and should be re-evaluated after infancy. At least two cases have been well documented [Ponzone et al, 1990;Schulpis et al, 1991], and more are listed in the BIODEF database [Blau and Dhondt, 1999], in which the cerebrospinal fluid (CSF) neurotransmitters were found to be normal in the first months of life but became progressively neurologically abnormal at 1-2 years of age, with very low CSF neurotransmitter levels.…”

Section: Introductionmentioning

confidence: 99%

Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia

et al. 1999

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Mutations in the 6‐pyruvoyltetrahydropterin synthase (PTPS) gene result in persistent hyperphenylalaninemia and severe catecholamine and serotonin deficiencies. We investigated at the DNA level a family with a PTPS‐deficient child presenting with an unusual form of transient hyperphenylalaninemia. The patient exhibited compound heterozygosity for the PTPS‐mutant alleles N47D and D116G. Transfection studies with single PTPS alleles in COS‐1 cells showed that the N47D allele was inactive, while D116G had around 66% of the wild‐type activity. Upon co‐transfection of two PTPS alleles into COS‐1 cells, the N47D allele had a dominant negative effect on both the wild‐type PTPS and the D116G mutant with relative reduction to about 20% of control values. Whereas the mother and the father had reduced enzyme activity in red blood cells (34.7% and 51.7%, respectively) and skin fibroblasts (2.8% and 15.4%, respectively), the clinically normal patient had in these cells activities at the detection limits, although PTPS‐cross‐reactive material was present in the fibroblasts. The specifically low PTPS activity in the mother's cells corroborated the evidence of a dominant negative effect of the maternal N47D allele on wild‐type PTPS. Hum Mutat 13:286–289, 1999. © 1999 Wiley‐Liss, Inc.

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A case of 6‐pyruvoyl‐tetrahydropterin synthase deficiency after screening 1 500 000 newborns in Greece

Cited by 3 publications

References 3 publications

Phenylketonuria in Sohag : A Preliminary Study

Phenylketonuria in Sohag : A Preliminary Study

A review of tobacco and alcohol use literature in the native and migrant Greek community

Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia

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