Nutrition management guideline for maple syrup urine disease: An evidence- and consensus-based approach

Frazier, Dianne M.; Allgeier, Courtney; Homer, Caroline; Marriage, Barbara J.; Ogata, Beth N.; Rohr, Frances J.; Splett, Patricia L.; Stembridge, Adrya; Singh, Rani H.

doi:10.1016/j.ymgme.2014.05.006

Cited by 143 publications

(173 citation statements)

References 58 publications

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“…Treatment for disorders of amino acid metabolism involves avoiding the toxic effects of dietary protein, while at the same time allowing sufficient protein intake for normal growth and development. This process typically uses specialized protein or amino acid restrictive diets (1). These patients require careful monitoring of protein intake for proper growth, which changes with age, development, and other factors (2).…”

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confidence: 99%

A Quantitative Method for the Measurement of Dried Blood Spot Amino Acids Using Ultra-Performance Liquid Chromatography

Bloom

Meyers

Bennett

2016

The Journal of Applied Laboratory Medicine

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Background Measurement of amino acids in dried blood spots has been extensively used for the detection of newborns with various inborn errors of amino acid metabolism including phenylketonuria (PKU) and maple syrup urine disease (MSUD). Whereas blood spot amino acid measurement has been invaluable for initial diagnosis, the relative insensitivity of blood spot measurement has found limited use in lifelong monitoring of patients with these disorders. The work described here outlines the evaluation of blood spot amino acid analysis using ultra-performance liquid chromatography (UPLC©) for use in follow-up testing. Methods Dried blood spot amino acids were derivatized with a proprietary AccQTag® reagent and separated using UPLC. Plasma amino acids from dried bloods spots were obtained from 318 patient samples and compared to corresponding plasma samples measured using the same UPLC method. Results Dried blood spot amino acid concentrations were highly correlated but negatively biased vs plasma concentrations. Interassay imprecision studies using UPLC demonstrated a %CV for phenylalanine of 4.81%–16.07%, tyrosine 5.62%–20.16%, valine 4.23%–15.46%, leucine 8.3%–15.3%, and isoleucine 4.25%–16.80%. Intraassay imprecision studies using UPLC demonstrated a %CV for phenylalanine of 0.42%–3.4%, tyrosine 1.6%–7.85%, valine 0.14%–1.84%, leucine 0.28%–2.01%, and isoleucine 0.6%–2.65%. Blood spot amino acid concentrations were stable for at least 3 days at temperatures up to 65 °C. Conclusions This UPLC-based method can reliably measure clinically significant amino acids in dried blood spots.

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confidence: 99%

A Quantitative Method for the Measurement of Dried Blood Spot Amino Acids Using Ultra-Performance Liquid Chromatography

Bloom

Meyers

Bennett

2016

The Journal of Applied Laboratory Medicine

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“…Avoiding an individual’s opinion to be biased by influential factors such as hierarchy and peer pressure. It is of scientific value because it can lead to an agreed set of recommendations to guidelines [8, 15, 16]. …”

Section: Methodsmentioning

confidence: 99%

National consensus on communication in prehospital trauma care, the DENIM study

Harmsen

Geeraedts

Giannakópoulos

et al. 2017

Scand J Trauma Resusc Emerg Med

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BackgroundIn the Netherlands prehospital trauma care is provided by emergency medical services (EMS) nurses. This care is extended by Physician staffed Helicopter Emergency Medical Services (P-HEMS) for the more severely injured patient. Prehospital communication is a factor of influence on the identification of these patients and the dispatch of P-HEMS. Though prehospital communication it is often perceived to be incomplete and unstructured. To elucidated factors of influence on prehospital triage and the identification of the severely injured patient a Delphi study was performed.MethodsA three round modified Delphi study was designed to explore concepts amongst experts in prehospital trauma care. P-HEMS physicians/nurses, trauma surgeons, EMS nurses and dispatch center operators where asked to state their opinion regarding identification of the poly trauma patient, trauma patient characteristics, prehospital communication and prehospital handover.ResultsSeventy-one panellist completed all three rounds. For the first round seven cases and 13 theses were presented. From the answers/argumentation the second round was build, in which 68 theses had to be ranked within four principle themes: factors that influence prehospital communication, critical information for proper handover, factors influencing collaboration and how training/education can influence this. Out of these answers the third survey was build, focussing on determining the exact content of a prehospital trauma handover. The majority of the panellists agreed to a set of parameters resulting in a new model of inter-professional hand over regarding prehospital trauma patients.DiscussionExact identification of the poly trauma patient in need of care by P-HEMS is difficult though prehospital communication and the prehospital handover may be improved.ConclusionThe respondents report that prehospital communication needs to be unambiguous to improve trauma care. Consensus was reached on a set of ten parameters that should minimally be handed over with regard to a prehospital trauma patient. This to facilitate prehospital communication between the Dispatch centre, EMS, P-HEMS and the receiving hospital.

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“…Fortunately for patient carrying some monogenic diseases (estimated to be <5% of the total) (http://www.globalgenes.org), a variety of therapies can alleviate the symptoms of the disease: dietary restrictions or medical food for those affected by Phenylketonuria or Maple syrup urine disease (Frazier et al, ); medicines and medical devices, such as insulin pumps, for those with type I diabetes; implantable defibrillators for the treatment of arrhythmias; organ transplants; and bone marrow transplants for a variety of leukemias. Enzyme replacement therapy, in which the mutant enzyme is replaced with recombinant enzyme, is available for diseases such as Hypophosphatasia (Whyte et al, ) and Gaucher disease, a lysosomal storage disease.…”

Section: Human Inherited Diseases and Their Therapiesmentioning

confidence: 99%

From phenologs to silent suppressors: Identifying potential therapeutic targets for human disease

Golden

2017

Molecular Reproduction Devel

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Orthologous phenotypes, or phenologs, are seemingly unrelated phenotypes generated by mutations in a conserved set of genes. Phenologs have been widely observed and accepted by those who study model organisms, and allow one to study a set of genes in a model organism to learn more about the function of those genes in other organisms, including humans. At the cellular and molecular level, these conserved genes likely function in a very similar mode, but are doing so in different tissues or cell types and can result in different phenotypic effects. For example, the RAS-RAF-MEK-MAPK pathway in animals is a highly conserved signaling pathway that animals adopted for numerous biological processes, such as vulval induction in Caenorhabditis elegans and cell proliferation in mammalian cells; but, this same gene set has been co-opted to function in a variety of cellular contexts. In this review, I will give a few examples of how suppressor screens in model organisms (with a emphasis on C. elegans) can identify new genes that function in a conserved pathway in many other organisms. I will also demonstrate how the identification of such genes can lead to important insights into mammalian biology. From such screens, an occasional silent suppressor that does not cause a phenotype on its own is found; such suppressors thus make for good candidates as therapeutic targets.

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Nutrition management guideline for maple syrup urine disease: An evidence- and consensus-based approach

Cited by 143 publications

References 58 publications

A Quantitative Method for the Measurement of Dried Blood Spot Amino Acids Using Ultra-Performance Liquid Chromatography

A Quantitative Method for the Measurement of Dried Blood Spot Amino Acids Using Ultra-Performance Liquid Chromatography

National consensus on communication in prehospital trauma care, the DENIM study

From phenologs to silent suppressors: Identifying potential therapeutic targets for human disease

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