Newborn Screening for Congenital Hypothyroidism and Phenylketonuria —Beyond Cost Savings
Although we agree with Appelberg et al that newborn screening (NBS) for phenylketonuria (PKU) and congenital hypothyroidism (CH) is of great value,1 we disagree that such results in net cost-savings. Their contention relies on assumptions derived from cost-benefit studies published 4 decades ago.2,3 In 2005, a commentary in this journal challenged those arguments.4 We later reviewed the frequencies of intellectual disability among individuals with late-treated PKU and CH;5,6 the latter review is the second reference cited in new CH clinical guidance. (Source: The Journal of Pediatrics)
Source: The Journal of Pediatrics - April 6, 2023 Category: Pediatrics Authors: Scott D. Grosse, Guy Van Vliet Tags: Letters to the Editor Source Type: research
Current Landscape on Development of Phenylalanine and Toxicity of its Metabolites- A Review
Curr Drug Saf. 2023 Mar 31. doi: 10.2174/1574886318666230331112800. Online ahead of print.ABSTRACTPhenylalanine, an essential amino acid, is the "building block" of protein. It has a tremendous role in different aspects of metabolic events. The tyrosine pathway is the prime one and is typically used to degrade dietary phenylalanine. Phenylalanine exceeds its limit in bodily fluids and the brain when the enzyme, phenylalanine decarboxylase, phenylalanine transaminase, phenylalanine hydroxylase (PAH) or its cofactor tetrahydrobiopterin (BH4) is deficient causes phenylketonuria, schizophrenia, attention-deficit/hyperactivity ...
Source: Current Drug Safety - March 31, 2023 Category: Drugs & Pharmacology Authors: Samrat Bose Shirsendu Mandal Rajesh Khan Himangshu Sekhar Maji Sumel Ashique Source Type: research
Validation and application of volumetric absorptive microsampling (VAMS) dried blood method for phenylalanine measurement in patients with phenylketonuria
CONCLUSIONS: Concordant results were obtained using VAMS and plasma methods, which demonstrated that VAMS is a reliable method for clinical applications to monitor blood Phe for PKU patients.PMID:37001750 | DOI:10.1016/j.clinbiochem.2023.03.012 (Source: Clinical Biochemistry)
Source: Clinical Biochemistry - March 31, 2023 Category: Biochemistry Authors: Lan Gao Neil Smith Diksha Kaushik Sarah Milner Ronald Kong Source Type: research
Current Landscape on Development of Phenylalanine and Toxicity of its Metabolites- A Review
Curr Drug Saf. 2023 Mar 31. doi: 10.2174/1574886318666230331112800. Online ahead of print.ABSTRACTPhenylalanine, an essential amino acid, is the "building block" of protein. It has a tremendous role in different aspects of metabolic events. The tyrosine pathway is the prime one and is typically used to degrade dietary phenylalanine. Phenylalanine exceeds its limit in bodily fluids and the brain when the enzyme, phenylalanine decarboxylase, phenylalanine transaminase, phenylalanine hydroxylase (PAH) or its cofactor tetrahydrobiopterin (BH4) is deficient causes phenylketonuria, schizophrenia, attention-deficit/hyperactivity ...
Source: Current Drug Safety - March 31, 2023 Category: Drugs & Pharmacology Authors: Samrat Bose Shirsendu Mandal Rajesh Khan Himangshu Sekhar Maji Sumel Ashique Source Type: research
Validation and application of volumetric absorptive microsampling (VAMS) dried blood method for phenylalanine measurement in patients with phenylketonuria
CONCLUSIONS: Concordant results were obtained using VAMS and plasma methods, which demonstrated that VAMS is a reliable method for clinical applications to monitor blood Phe for PKU patients.PMID:37001750 | DOI:10.1016/j.clinbiochem.2023.03.012 (Source: Clinical Biochemistry)
Source: Clinical Biochemistry - March 31, 2023 Category: Biochemistry Authors: Lan Gao Neil Smith Diksha Kaushik Sarah Milner Ronald Kong Source Type: research
Current Landscape on Development of Phenylalanine and Toxicity of its Metabolites- A Review
Curr Drug Saf. 2023 Mar 31. doi: 10.2174/1574886318666230331112800. Online ahead of print.ABSTRACTPhenylalanine, an essential amino acid, is the "building block" of protein. It has a tremendous role in different aspects of metabolic events. The tyrosine pathway is the prime one and is typically used to degrade dietary phenylalanine. Phenylalanine exceeds its limit in bodily fluids and the brain when the enzyme, phenylalanine decarboxylase, phenylalanine transaminase, phenylalanine hydroxylase (PAH) or its cofactor tetrahydrobiopterin (BH4) is deficient causes phenylketonuria, schizophrenia, attention-deficit/hyperactivity ...
Source: Current Drug Safety - March 31, 2023 Category: Drugs & Pharmacology Authors: Samrat Bose Shirsendu Mandal Rajesh Khan Himangshu Sekhar Maji Sumel Ashique Source Type: research
Validation and application of volumetric absorptive microsampling (VAMS) dried blood method for phenylalanine measurement in patients with phenylketonuria
CONCLUSIONS: Concordant results were obtained using VAMS and plasma methods, which demonstrated that VAMS is a reliable method for clinical applications to monitor blood Phe for PKU patients.PMID:37001750 | DOI:10.1016/j.clinbiochem.2023.03.012 (Source: Clinical Biochemistry)
Source: Clinical Biochemistry - March 31, 2023 Category: Biochemistry Authors: Lan Gao Neil Smith Diksha Kaushik Sarah Milner Ronald Kong Source Type: research
Current Landscape on Development of Phenylalanine and Toxicity of its Metabolites- A Review
Curr Drug Saf. 2023 Mar 31. doi: 10.2174/1574886318666230331112800. Online ahead of print.ABSTRACTPhenylalanine, an essential amino acid, is the "building block" of protein. It has a tremendous role in different aspects of metabolic events. The tyrosine pathway is the prime one and is typically used to degrade dietary phenylalanine. Phenylalanine exceeds its limit in bodily fluids and the brain when the enzyme, phenylalanine decarboxylase, phenylalanine transaminase, phenylalanine hydroxylase (PAH) or its cofactor tetrahydrobiopterin (BH4) is deficient causes phenylketonuria, schizophrenia, attention-deficit/hyperactivity ...
Source: Current Drug Safety - March 31, 2023 Category: Drugs & Pharmacology Authors: Samrat Bose Shirsendu Mandal Rajesh Khan Himangshu Sekhar Maji Sumel Ashique Source Type: research
Validation and application of volumetric absorptive microsampling (VAMS) dried blood method for phenylalanine measurement in patients with phenylketonuria
CONCLUSIONS: Concordant results were obtained using VAMS and plasma methods, which demonstrated that VAMS is a reliable method for clinical applications to monitor blood Phe for PKU patients.PMID:37001750 | DOI:10.1016/j.clinbiochem.2023.03.012 (Source: Clinical Biochemistry)
Source: Clinical Biochemistry - March 31, 2023 Category: Biochemistry Authors: Lan Gao Neil Smith Diksha Kaushik Sarah Milner Ronald Kong Source Type: research
Current Landscape on Development of Phenylalanine and Toxicity of its Metabolites- A Review
Curr Drug Saf. 2023 Mar 31. doi: 10.2174/1574886318666230331112800. Online ahead of print.ABSTRACTPhenylalanine, an essential amino acid, is the "building block" of protein. It has a tremendous role in different aspects of metabolic events. The tyrosine pathway is the prime one and is typically used to degrade dietary phenylalanine. Phenylalanine exceeds its limit in bodily fluids and the brain when the enzyme, phenylalanine decarboxylase, phenylalanine transaminase, phenylalanine hydroxylase (PAH) or its cofactor tetrahydrobiopterin (BH4) is deficient causes phenylketonuria, schizophrenia, attention-deficit/hyperactivity ...
Source: Current Drug Safety - March 31, 2023 Category: Drugs & Pharmacology Authors: Samrat Bose Shirsendu Mandal Rajesh Khan Himangshu Sekhar Maji Sumel Ashique Source Type: research
Current Landscape on Development of Phenylalanine and Toxicity of its Metabolites- A Review
Curr Drug Saf. 2023 Mar 31. doi: 10.2174/1574886318666230331112800. Online ahead of print.ABSTRACTPhenylalanine, an essential amino acid, is the "building block" of protein. It has a tremendous role in different aspects of metabolic events. The tyrosine pathway is the prime one and is typically used to degrade dietary phenylalanine. Phenylalanine exceeds its limit in bodily fluids and the brain when the enzyme, phenylalanine decarboxylase, phenylalanine transaminase, phenylalanine hydroxylase (PAH) or its cofactor tetrahydrobiopterin (BH4) is deficient causes phenylketonuria, schizophrenia, attention-deficit/hyperactivity ...
Source: Current Drug Safety - March 31, 2023 Category: Drugs & Pharmacology Authors: Samrat Bose Shirsendu Mandal Rajesh Khan Himangshu Sekhar Maji Sumel Ashique Source Type: research
Current Landscape on Development of Phenylalanine and Toxicity of its Metabolites- A Review
Curr Drug Saf. 2023 Mar 31. doi: 10.2174/1574886318666230331112800. Online ahead of print.ABSTRACTPhenylalanine, an essential amino acid, is the "building block" of protein. It has a tremendous role in different aspects of metabolic events. The tyrosine pathway is the prime one and is typically used to degrade dietary phenylalanine. Phenylalanine exceeds its limit in bodily fluids and the brain when the enzyme, phenylalanine decarboxylase, phenylalanine transaminase, phenylalanine hydroxylase (PAH) or its cofactor tetrahydrobiopterin (BH4) is deficient causes phenylketonuria, schizophrenia, attention-deficit/hyperactivity ...
Source: Current Drug Safety - March 31, 2023 Category: Drugs & Pharmacology Authors: Samrat Bose Shirsendu Mandal Rajesh Khan Himangshu Sekhar Maji Sumel Ashique Source Type: research
Current Landscape on Development of Phenylalanine and Toxicity of its Metabolites- A Review
Curr Drug Saf. 2023 Mar 31. doi: 10.2174/1574886318666230331112800. Online ahead of print.ABSTRACTPhenylalanine, an essential amino acid, is the "building block" of protein. It has a tremendous role in different aspects of metabolic events. The tyrosine pathway is the prime one and is typically used to degrade dietary phenylalanine. Phenylalanine exceeds its limit in bodily fluids and the brain when the enzyme, phenylalanine decarboxylase, phenylalanine transaminase, phenylalanine hydroxylase (PAH) or its cofactor tetrahydrobiopterin (BH4) is deficient causes phenylketonuria, schizophrenia, attention-deficit/hyperactivity ...
Source: Current Drug Safety - March 31, 2023 Category: Drugs & Pharmacology Authors: Samrat Bose Shirsendu Mandal Rajesh Khan Himangshu Sekhar Maji Sumel Ashique Source Type: research
Myelin basic protein recovery during PKU mice lifespan and the potential role of microRNAs on its regulation
In conclusion, these results provide a new perspective on the PKU pathophysiology understanding and on a possible treatment, emphasizing the potential modulating role of differentially expressed microRNAs in MBP expression on PKU brains during PKU mouse lifespan.PMID:36948260 | DOI:10.1016/j.nbd.2023.106093 (Source: Neurobiology of Disease)
Source: Neurobiology of Disease - March 22, 2023 Category: Neurology Authors: Alessandro Bregalda Claudia Carducci Maria Teresa Viscomi Francesca Pierig è Sara Biagiotti Michele Menotta Federica Biancucci Tiziana Pascucci Vincenzo Leuzzi Mauro Magnani Luigia Rossi Source Type: research
Myelin basic protein recovery during PKU mice lifespan and the potential role of microRNAs on its regulation
In conclusion, these results provide a new perspective on the PKU pathophysiology understanding and on a possible treatment, emphasizing the potential modulating role of differentially expressed microRNAs in MBP expression on PKU brains during PKU mouse lifespan.PMID:36948260 | DOI:10.1016/j.nbd.2023.106093 (Source: Neurobiology of Disease)
Source: Neurobiology of Disease - March 22, 2023 Category: Neurology Authors: Alessandro Bregalda Claudia Carducci Maria Teresa Viscomi Francesca Pierig è Sara Biagiotti Michele Menotta Federica Biancucci Tiziana Pascucci Vincenzo Leuzzi Mauro Magnani Luigia Rossi Source Type: research
