ESI–MS/MS study of acylcarnitine profiles in urine from patients with organic acidemias and fatty acid oxidation disorders

Kobayashi, Hironori; Hasegawa, Yuki; Endo, Mitsuru; Purevsuren, Jamiyan; Yamaguchi, Seiji

doi:10.1016/j.jchromb.2006.12.010

Cited by 23 publications

(21 citation statements)

References 19 publications

(40 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Plasma FFA and urine acylglycine profiles are helpful for the diagnosis, but they are not essential for it (Onkenhout et al 1995;Bonafé et al 2000;Kobayashi et al 2007). However, the clearly elevated concentration of cis-4-decenoic acid (C10: 1n-9) (Table 1) in patient 8 with very mild elevation of acylcarnitines and normal C8/C10 ratio, contributed decisively to the diagnosis.…”

Section: Discussionmentioning

confidence: 99%

Relevance of Expanded Neonatal Screening of Medium-Chain Acyl Co-A Dehydrogenase Deficiency: Outcome of a Decade in Galicia (Spain)

et al. 2011

View full text Add to dashboard Cite

Neonatal screening of medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is of major importance due to the significant morbidity and mortality in undiagnosed patients. MCADD screening has been performed routinely in Galicia since July 2000, and until now 199,943 newborns have been screened. We identified 11 cases of MCADD, which gives an incidence of 1/18,134. During this period, no false negative screens have been detected. At diagnosis, all identified newborns were asymptomatic. Our data showed that octanoylcarnitine (C8) and C8/C10 ratio are the best markers for screening of MCADD. C8 was increased in all patients and C8/C10 was increased in all but one patient.The common mutation, c.985A>G, was found in homozygosity in seven newborns and in compound heterozygosity in three, while one patient did not carry the common mutation at all. In addition, two novel mutations c.245G>C (p.W82S) and c.542A>G (p.D181G) were identified. Ten of the 11 identified newborns did not experience any episodes of decompensation. The patient with the highest level of medium chain acylcarnitines at diagnosis, who was homozygous for the c.985A>G mutation, died at the age of 2 years due to a severe infection. This is the first report of the results from neonatal screening for MCADD in Spain. Our data provide further evidence of the benefits of MCADD screening and contribute to better understanding of this disease.

show abstract

Section: Discussionmentioning

confidence: 99%

Relevance of Expanded Neonatal Screening of Medium-Chain Acyl Co-A Dehydrogenase Deficiency: Outcome of a Decade in Galicia (Spain)

et al. 2011

View full text Add to dashboard Cite

show abstract

“…OA urine profile: Methylmalonate, methylcitrate, 3-hydroxypropionate, propionylglycine [13,19,21,37,38].…”

Section: Clinical Contextmentioning

confidence: 99%

“…C8 [8-10, 16-19, 37] C10 [9,10,17,19,37] C4 [8-10, 16, 18, 19, 37, 72] C5 [8-10, 16, 18, 72] C5DC [8,16,18,72] C6 [9,16,18,19,37,72] C12 [9,10,16,18,19,72] C14:1 [9,19,37] C14 [8-10, 16, 18, 19] C16 [10,19,72] C18:1 [9,19] C18 [9,20] OA urine Profile: Glutarate ethylmalonate, hexanoylglycine, adipate, suberate, sebacate, 2-hydroxyglutarate, isovalerylglycine, isobutyrylglycine, 2-methylbutyrylglycine, phenylpropionylglycine, suberylglycine [13,19,21].…”

Section: Ga-ii 231680mentioning

confidence: 99%

“…C5OH [8,9,13,14,[16][17][18]37] C3 [8,9,13,[16][17][18] C3/C2 [37] C5-OH/C8 [14] C5:1 [37] OA urine profile: 3-Hydroxyisovaleric acid, lactic acid, methylcitric acid, 3-hydroxypropionic acid, 3-methylcrotonylglycine, tiglylglycine, pyruvate, acetoacetate, 3-hydroxybutyrate [13,18,21,39,40].…”

mentioning

confidence: 99%

“…OA urine profile: Glutarate, 3-hydroxyglutarate, glutaconate, glutarylglycine[13,19,21,37,[48][49][50][51][52][53]. Molecular studies or enzymatic assay[49].OA urine profile: 3-Hydroxyisovalerate, isovalerylglycine [13,18,19,21,38,[54][55][56]…”

mentioning

confidence: 99%

See 2 more Smart Citations

Tandem Mass Spectrometry Newborn Screening for Inborn Errors of Intermediary Metabolism: Abnormal Profile Interpretation

Fernández-Lainez¹,

Aguilar-Lemus²,

Vela-Amieva³

et al. 2012

CMC

View full text Add to dashboard Cite

Expanded newborn screening for inherited metabolic disorders using tandem mass spectrometry was introduced in 1990's and is widely used around the world. In contrast to conventional screening methods, tandem mass spectrometry does not measure single analytes but identifies and quantifies metabolite profiles; one single blood spot analyzed provides information of about 60 metabolites including amino acids, acylcarnitines and related ratios that enable the diagnosis of approximately 50 different diseases. However, the interpretation of these profiles can become quite complex. The aim of this work is to present in an easy and practical manner a comprehensive compilation of information needed for tandem mass neonatal screening profile interpretation, and basic actions for immediate follow up of abnormal results, including the tests that are required for confirmatory purposes. Other conditions not attributable to metabolic disorders which can lead to an abnormal profile of these markers are also described as well as a series of general recommendations which would be useful for health professionals who are beginning newborn screening for inborn errors of intermediary metabolism using tandem mass spectrometry.

show abstract

Assessment of carnitine excretion and its ratio to plasma free carnitine as a biomarker for primary carnitine deficiency in newborns

et al. 2022

View full text Add to dashboard Cite

In the Netherlands, newborns are referred by the newborn screening (NBS) Program when a low free carnitine (C0) concentration (<5 μmol/l) is detected in their NBS dried blood spot. This leads to ~85% false positive referrals who all need an invasive, expensive and lengthy evaluation. We investigated whether a ratio of urine C0 / plasma C0 (RatioU:P) can improve the follow‐up protocol for primary carnitine deficiency (PCD). A retrospective study was performed in all Dutch metabolic centres, using samples from newborns and mothers referred by NBS due to low C0 concentration. Samples were included when C0 excretion and plasma C0 concentration were sampled on the same day. RatioU:P was calculated as (urine C0 [μmol/mmol creatinine])/(plasma C0 [μmol/l]). Data were available for 59 patients with genetically confirmed PCD and 68 individuals without PCD. The RatioU:P in PCD patients was significantly higher (p value < 0.001) than in those without PCD, median [IQR], respectively: 3.4 [1.2–9.5], 0.4 [0.3–0.8], area under the curve (AUC) 0.837. Classified for age (up to 1 month) and without carnitine suppletion (PCD; N = 12, Non‐PCD; N = 40), medians were 6.20 [4.4–8.8] and 0.37 [0.24–0.56], respectively. The AUC for RatioU:P was 0.996 with a cut‐off required for 100% sensitivity at 1.7 (yielding one false positive case). RatioU:P accurately discriminates between positive and false positive newborn referrals for PCD by NBS. RatioU:P is less effective as a discriminative tool for PCD in adults and for individuals that receive carnitine suppletion.

show abstract

ESI–MS/MS study of acylcarnitine profiles in urine from patients with organic acidemias and fatty acid oxidation disorders

Cited by 23 publications

References 19 publications

Relevance of Expanded Neonatal Screening of Medium-Chain Acyl Co-A Dehydrogenase Deficiency: Outcome of a Decade in Galicia (Spain)

Relevance of Expanded Neonatal Screening of Medium-Chain Acyl Co-A Dehydrogenase Deficiency: Outcome of a Decade in Galicia (Spain)

Tandem Mass Spectrometry Newborn Screening for Inborn Errors of Intermediary Metabolism: Abnormal Profile Interpretation

Assessment of carnitine excretion and its ratio to plasma free carnitine as a biomarker for primary carnitine deficiency in newborns

Contact Info

Product

Resources

About