Erratum to “A biochemical perspective on the use of tandem mass spectrometry for newborn screening and clinical testing” [Clin. Biochem. 38 (2005) 296–309]

Chace, Donald H.; Kalas, Theodore A.

doi:10.1016/j.clinbiochem.2005.03.006

Cited by 15 publications

(18 citation statements)

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“…Phenylketonuria (PKU) is caused by a deficiency of the enzyme phenylalanine hydroxylase or its cofactors [9], leading to the accumulation of phenylalanine [30]. PKU can be diagnosed by an increased ratio of phenylalanine to tyrosine in serum [31].…”

Section: Inborn Errors Of Amino Acid Metabolismmentioning

confidence: 99%

“…Glycine is a precursor of porphyrins, whereas ornithine is a precursor of polyamines [6] and arginine can be metabolized to form nitric oxide [7]. Elevated amino acid levels in blood plasma and urine are well-known markers for inborn errors of metabolism, such as phenylalanine in phenylketonuria (PKU) or branched-chain amino acids in maple syrup urine disease (MSUD) [8,9]. Amino acids also serve as markers for nutritional influences, e.g., urinary taurine levels are an indicator for fish intake [10], while the 1-methylhistidine level in urine correlates with meat protein intake [11].…”

Section: Introductionmentioning

confidence: 99%

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Automated GC–MS analysis of free amino acids in biological fluids

Kaspar

Dettmer

Gronwald

et al. 2008

Journal of Chromatography B

169

119

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Section: Inborn Errors Of Amino Acid Metabolismmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Automated GC–MS analysis of free amino acids in biological fluids

Kaspar

Dettmer

Gronwald

et al. 2008

Journal of Chromatography B

169

119

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“…6 Newborn screening is mandatory in most countries; however, the measured biomarkers differ significantly between them, with 42 (20 primary and 22 secondary disorders) metabolic conditions screened for newborn screening in some states within the USA and countries participating in the Stork program (Iceland being one of the participating country). 7,8 The substantial increase in the number of patients diagnosed with IEMs 4,9 can be majorly attributed to improved and standardized measurements of amino acids and acylcarnitine concentrations.…”

Section: Introductionmentioning

confidence: 99%

A compendium of inborn errors of metabolism mapped onto the human metabolic network

et al. 2012

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Inborn errors of metabolism (IEMs) are hereditary metabolic defects, which are encountered in almost all major metabolic pathways occurring in man. Many IEMs are screened for in neonates through metabolomic analysis of dried blood spot samples. To enable the mapping of these metabolomic data onto the published human metabolic reconstruction, we added missing reactions and pathways involved in acylcarnitine (AC) and fatty acid oxidation (FAO) metabolism. Using literary data, we reconstructed an AC/FAO module consisting of 352 reactions and 139 metabolites. When this module was combined with the human metabolic reconstruction, the synthesis of 39 acylcarnitines and 22 amino acids, which are routinely measured, was captured and 235 distinct IEMs could be mapped. We collected phenotypic and clinical features for each IEM enabling comprehensive classification. We found that carbohydrate, amino acid, and lipid metabolism were most affected by the IEMs, while the brain was the most commonly affected organ. Furthermore, we analyzed the IEMs in the context of metabolic network topology to gain insight into common features between metabolically connected IEMs. While many known examples were identified, we discovered some surprising IEM pairs that shared reactions as well as clinical features but not necessarily causal genes. Moreover, we could also re-confirm that acetyl-CoA acts as a central metabolite. This network based analysis leads to further insight of hot spots in human metabolism with respect to IEMs. The presented comprehensive knowledge base of IEMs will provide a valuable tool in studying metabolic changes involved in inherited metabolic diseases.

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“…While much of the focus has been on utilizing the attributes of MS, such as high sensitivity, resolution, and mass accuracy, for identifying thousands of species, it is sometimes forgotten that these characteristics also enable this technology to quantitate a single component in a complex mixture. This ability has been very effectively demonstrated in a clinical setting through the detection of in-born errors of metabolism [26]. This MS/MS-based technology provides a multianalyte metabolic profile of blood samples obtained from newborns and has been used to detect diseases such as phenylketonuria and disorders arising from errors in fatty acid oxidation and organic acid metabolism.…”

Section: Targeted Approaches To Quantitate Biomarkersmentioning

confidence: 99%