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Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options

Overview of attention for article published in Biochemical Genetics, November 2017
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Title
Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options
Published in
Biochemical Genetics, November 2017
DOI 10.1007/s10528-017-9825-6
Pubmed ID
Authors

Muhammad Wasim, Fazli Rabbi Awan, Haq Nawaz Khan, Abdul Tawab, Mazhar Iqbal, Hina Ayesha

Abstract

Inborn errors of metabolism (IEMs) are a group of inherited metabolic disorders which are caused by mutations in the specific genes that lead to impaired proteins or enzymes production. Different metabolic pathways are perturbed due to the deficiency or lack of enzymes. To date, more than 500 IEMs have been reported with most of them being untreatable. However, fortunately 91 such disorders are potentially treatable, if diagnosed at an earlier stage of life. IEMs have been classified into different categories and one class of IEMs, characterized by the physiological disturbances of amino acids is called as aminoacidopathies. Out of 91 treatable IEM, thirteen disorders are amino acid related. Aminoacidopathies can be detected by chromatography and mass spectrometry based analytical techniques (e.g., HPLC, GC-MS, LC-MS/MS) for amino acid level changes, and through genetic assays (e.g., PCR, TaqMan Genotyping, DNA sequencing) at the mutation level in the corresponding genes. Hence, this review is focused to describe thirteen common aminoacidopathies namely: Phenylketonuria (PKU), Maple Syrup Urine Disease (MSUD), Homocystinuria/Methylene Tetrahydrofolate Reductase (MTHFR) deficiency, Tyrosinemia type II, Citrullinemia type I and type II, Argininosuccinic aciduria, Carbamoyl Phosphate Synthetase I (CPS) deficiency, Argininemia (arginase deficiency), Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome, N-Acetylglutamate Synthase (NAGS) deficiency, Ornithine Transcarbamylase (OTC) deficiency, and Pyruvate Dehydrogenase (PDH) complex deficiency. Furthermore, the etiology, prevalence and commonly used analytical techniques for screening of aminoacidopathies are briefly described. This information would be helpful to researchers and clinicians especially from developing countries to initiate newborn screening programs for aminoacidopathies.

Mendeley readers

The data shown below were compiled from readership statistics for 34 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 34 100%

Demographic breakdown

Readers by professional status Count As %
Unspecified 7 21%
Student > Ph. D. Student 7 21%
Student > Master 6 18%
Student > Postgraduate 4 12%
Student > Bachelor 4 12%
Other 6 18%
Readers by discipline Count As %
Medicine and Dentistry 9 26%
Unspecified 8 24%
Biochemistry, Genetics and Molecular Biology 6 18%
Pharmacology, Toxicology and Pharmaceutical Science 4 12%
Agricultural and Biological Sciences 2 6%
Other 5 15%

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 10 December 2017.
All research outputs
#10,880,079
of 12,276,356 outputs
Outputs from Biochemical Genetics
#219
of 257 outputs
Outputs of similar age
#277,730
of 332,450 outputs
Outputs of similar age from Biochemical Genetics
#1
of 1 outputs
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