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244 search results for:

Mild Hyperphenylalaninemia 

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  1. Open Access 01-12-2022 | Tremor | OriginalPaper

    Mild hyperphenylalaninemia (hpa) presenting as orthostatic tremor: a case report

    Mild hyperphenylalaninemia (HPA) is a phenotype of phenylketonuria (PKU), which can be divided into three types, namely, typical PKU, mild PKU, and mild HPA, based on the blood concentration of phenylalanine before treatment [ 1 ]. Tremor is found …

  2. 21-06-2022 | Phenylketonuria | OriginalPaper

    Cognitive function in untreated subjects with mild hyperphenylalaninemia: a systematic review

    Phenylketonuria (PKU, OMIM #261,600) is an autosomal recessive disorder of phenylalanine (Phe) metabolism. PKU is caused due to the deficiency or absence of the liver enzyme phenylalanine hydroxylase or its cofactor, tetrahydrobiopterin (BH4).

  3. Open Access 01-06-2011 | ReviewPaper

    Mild hyperphenylalaninemia: to treat or not to treat

    One of the issues to be resolved in phenylketonuria is whether patients with mild hyperphenylalaninemia need treatment, or in other words, in what patients treatment needs to be started. Do patients need treatment when phenylalanine concentrations …

  4. Open Access 22-01-2024 | OriginalPaper

    Splice-Modulating Antisense Oligonucleotides as Therapeutics for Inherited Metabolic Diseases

    The last decade (2013–2023) has seen unprecedented successes in the clinical translation of therapeutic antisense oligonucleotides (ASOs). Eight such molecules have been granted marketing approval by the United States Food and Drug Administration …

  5. Open Access 01-12-2023 | Phenylketonuria | OriginalPaper

    Identification of deep intronic variants of PAH in phenylketonuria using full-length gene sequencing

    Hyperphenylalaninemia (HPA) is the most common hereditary disorder of amino acid metabolism worldwide. The main type of HPA is phenylketonuria (PKU), an autosomal recessive disease caused by variants of PAH , the gene encoding phenylalanine …

  6. Open Access 01-12-2023 | Phenylketonuria | OriginalPaper

    New challenges in management of phenylketonuria in pregnancy: a case report

    Phenylketonuria (PKU) is specifically an aminoacidopathy caused by a defect of the hepatic hydroxylation of phenylalanine (PAH), which results in the accumulation of phenylalanine in the central nervous system. PAH turns phenylalanine into …

  7. Open Access 01-12-2024 | Neonatal Screening | OriginalPaper

    Next-generation sequencing based newborn screening and comparative analysis with MS/MS

    Newborn screening (NBS) was defined as specialized examinations conducted during the neonatal period, to detect congenital and hereditary diseases which pose a significant threat to newborn health. This process aims to provide early diagnosis and …

  8. 10-03-2023 | Restless Legs Syndrome | BriefCommunication

    Restless legs syndrome in DNAJC12 deficiency

    Restless legs syndrome (RLS) is a movement disorder characterized by an uncontrollable urge to move because of uncomfortable or painful sensation mostly localized to the legs, with diurnal fluctuations and release with movement [ 1 ]. The …

  9. Open Access 01-12-2023 | SARS-CoV-2 | OriginalPaper

    Symptoms of SARS-CoV-2 infection and vaccine status of sixty-seven adult patients affected by inherited metabolic diseases: a phone survey

    The Covid pandemic seems to have had several detrimental effects on the management of patients affected by inherited metabolic diseases (IMD), although published data about the impact of COVID-19 on patients suffering from IMD are very scarce.

  10. 01-03-2022 | Dystonia

    Disorders of Tetrahydrobiopterin Metabolism: Experience from South India

    Disorders of tetrahydrobiopterin (BH4) metabolism were initially described in the 20 th century as ‘atypical’ or ‘malignant Phenylketonuria’ (PKU) in a subset of patients diagnosed to have hyperphenylalaninemia (HPA) with poor response to dietary …

  11. Open Access 01-12-2021 | Neonatal Screening | OriginalPaper

    Neonatal screening and genotype-phenotype correlation of hyperphenylalaninemia in the Chinese population

    Hyperphenylalaninemia (HPA), which is the most commonly occurring genetic amino acid metabolism disorder, is caused by enzyme defects in the phenylalanine metabolic pathway, such as phenylalanine hydroxylase (PAH) deficiency (PAHD) (OMIM 261,600) …

  12. Open Access 01-12-2024 | Phenylketonuria | OriginalPaper

    The investigation of serum phenylalanine levels based on infant feeding method: a cross-sectional study of children less than two years old with phenylketonuria (PKU)

    Phenylketonuria (PKU) is an autosomal recessive inborn error of Inherited Metabolic Disorders (IMDs) that lead to enzymatic deficiencies within specific metabolic pathways caused by genetic mutations in the phenylalanine hydroxylase (PAH) gene …

  13. 01-08-2021 | Phenylketonuria

    DNACJ12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant

    In addition to tetrahydrobiopterin deficiencies and phenylalanine hydroxylase deficiency (phenylketonuria) due to PAH variants, the deficiency of the co-chaperone protein DNAJC12 was identified in 2017 as a novel cause of inherited …

  14. Open Access 01-12-2021 | Phenylketonuria | OriginalPaper

    Birth prevalence of phenylalanine hydroxylase deficiency: a systematic literature review and meta-analysis

    Phenylalanine hydroxylase (PAH) deficiency is an autosomal recessive disorder that results in elevated concentrations of the amino acid phenylalanine (Phe) in the blood [ 1 – 4 ]. Over 1000 PAH variants exist [ 5 ], and depending on the inherited …

  15. 01-12-2021 | Dystonia | OriginalPaper

    Approaches for diagnosis and treatment in neurotransmitter disorders of childhood

    Neurotransmitter disorders are a group of neurometabolic syndromes caused by disturbances of neurotransmitter metabolism. The primary aim of this retrospective study is to present patients with disturbances of monoamine neurotransmitter …

  16. 01-12-2020 | Phenylketonuria | Original Research

    Phenylketonuria screening in Iranian newborns: a systematic review and meta-analysis

    Phenylketonuria (PKU), which is characterized by a deficiency of phenylalanine hydroxylase (PAH) activity, is an autosomal recessive disorder of phenylalanine (Phe) metabolism [ 1 ]. If left untreated, high blood Phe concentrations pass through the …

  17. 01-04-2021 | Phenylketonuria

    Oxidative stress in phenylketonuria—evidence from human studies and animal models, and possible implications for redox signaling

    Phenylketonuria (PKU) is one of the commonest inborn error of amino acid metabolism. Before mass neonatal screening was possible, and the success of introducing diet therapy right after birth, the typical clinical finds in patients ranged from …

  18. 01-06-2021 | Dystonia | ReviewPaper

    Dopa-responsive dystonia, DRD-plus and DRD look-alike: a pragmatic review

    Dopa-responsive dystonia (DRD) and DRD plus are diseases of the dopamine pathway with sizeable genetic diversity and myriad presentations. DRD has onset in childhood or adolescence with focal dystonia, commonly affecting lower limb, diurnal …

  19. 01-10-2020 | Phenylketonuria | OriginalPaper

    Neonatal phenylalanine wash-out in phenylketonuria

    Phenylketonuria (PKU) is the most common inborn error of amino acids metabolism. PKU management aims to keep as soon as possible blood phenylalanine (Phe), a non-acutely neurotoxic metabolite, within safe ranges through a dietary Phe restriction …

  20. Open Access 01-12-2022 | Obesity | OriginalPaper

    Growth and Nutritional Status of Phenylketonuric Children and Adolescents

    Phenylalanine hydroxylase (PAH), is a cytosolic homotetramer [ 1 ] and monooxygenase enzyme [ 2 ] that hydroxylated phenylalanine [ 3 ] using tetrahydrobiopterin (BH4) as a cofactor [ 4 ]. Deficiencies in this hepatic enzyme cause a rare genetic …

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