Newborn screening for carnitine palmitoyltransferase II deficiency using (C16 + C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity

Tanaka, Go; Hara, Keiichi; Tsumura, Miyuki; Kagawa, Reiko; Okada, Satoshi; Sakura, Nobuo; Maruyama, Shinsuke; Noguchi, Atsuko; Awaya, Tomonari; Ishige, Mika; Ishige, Nobuyuki; Musha, Ikuma; Ajihara, Sayaka; Ohtake, Akira; Naito, Etsuo; Hamada, Yusuke; Kono, Tomotaka; Asada, Tomoko; Sasai, Hideo; Fukao, Toshiyuki; Fujiki, Ryoji; Ohara, Osamu; Bo, Ryosuke; Yamada, Kenji; Kobayashi, Hironori; Hasegawa, Yuki; Yamaguchi, Seiji; Takayanagi, Masaki; Hata, Ikue; Shigematsu, Yosuke; Kobayashi, Masao

doi:10.1016/j.ymgme.2017.07.011

Cited by 27 publications

(29 citation statements)

References 25 publications

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“…CACT deficiency (MIM212138) was first described in 1992 6 ; it is a rare autosomal-recessive disease of mitochondrial fatty acid oxidation with a high mortality rate (65%). In CACT deficiency, abnormal acylcarnitine profiles revealed high levels of C16-carnitine and (C16 + C18:1)/C2, including C14/C3, similar to those found in CPT II deficiency in a mass screening of newborns 7 . Most patients (82%) with neonatal-onset CACT deficiency have hypoketotic hypoglycemia, hyperammonemia, skeletal muscle weakness, and cardiomyopathy with arrhythmia, leading to cardiac arrest 8 .…”

supporting

confidence: 63%

A novel homozygous missense SLC25A20 mutation in three CACT-deficient patients: clinical and autopsy data

et al. 2020

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Carnitine-acylcarnitine translocase (CACT) deficiency is a fatty acid ß-oxidation disorder of the carnitine shuttle in mitochondria, with a high mortality rate in childhood. We evaluated three patients, including two siblings, with neonatal-onset CACT deficiency and revealed identical homozygous missense mutations of p.Arg275Gln within the SLC25A20 gene. One patient died from hypoglycemia and arrhythmia at 26 months; his pathological autopsy revealed increased and enlarged mitochondria in the heart but not in the liver.

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supporting

confidence: 63%

A novel homozygous missense SLC25A20 mutation in three CACT-deficient patients: clinical and autopsy data

et al. 2020

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“…Since laboratory testing methodologies that establish cutoffs vary, it is difficult to directly compare metabolite results and cutoffs between NBS laboratories. Variability between NBS results and cutoffs may also occur for the following reasons: not accounting for metabolite recovery, the use of additional metabolites or metabolite ratios per screening disorder [ 5 , 6 , 7 , 8 , 9 , 10 , 11 ], differences in mass spectrometer vendor and model, differences in internal standard surrogates [ 12 , 13 ], and varying use of calibration curves.…”

Section: Introductionmentioning

confidence: 99%

Harmonizing Newborn Screening Laboratory Proficiency Test Results Using the CDC NSQAP Reference Materials

Pickens

Sternberg

Seeterlin

et al. 2020

IJNS

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Newborn screening (NBS) laboratories cannot accurately compare mass spectrometry-derived results and cutoff values due to differences in testing methodologies. The objective of this study was to assess harmonization of laboratory proficiency test (PT) results using quality control (QC) data. Newborn Screening Quality Assurance Program (NSQAP) QC and PT data reported from 302 laboratories in 2019 were used to compare results among laboratories. QC materials were provided as dried blood spot cards which included a base pool and the base pool enriched with specific concentrations of metabolites in a linear range. QC data reported by laboratories were regressed on QC data reported by the Centers for Disease Control and Prevention (CDC), and laboratory’s regression parameters were used to harmonize their PT result. In general, harmonization tended to reduce overall variation in PT data across laboratories. The metabolites glutarylcarnitine (C5DC), tyrosine, and phenylalanine were displayed to highlight inter- and intra-method variability in NBS results. Several limitations were identified using retrospective data for harmonization, and future studies will address these limitations to further assess feasibility of using NSQAP QC data to harmonize PT data. Harmonizing NBS data using common QC materials appears promising to aid result comparison between laboratories.

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“…Numerous metabolites correlated with insulin resistance and dysglycaemia have been elucidated by recent metabolomics studies [7,8] . Foetal metabolites associated with dysglycaemia include carbohydrates [9] , lipid pro les [10] , carnitines [11] and amino acids [12] , particularly branched-chain amino acids [13] and aromatic amino acids [14] . In addition, maternal dyslipidaemia may be associated with neonatal metabolism changes, such as amino acid metabolism and carnitine levels [12] .…”

Section: Introductionmentioning

confidence: 99%

Mid-late pregnancy maternal glycolipids in gestational diabetes mellitus (GDM) fluctuated in glycosylated hemoglobin levels of 5.5%-6.4% associated with umbilical cord blood of amino acid and carnitine profiles: a nested case-cohort observational study

Long¹,

Chen²,

Yang³

et al. 2020

Preprint

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Background To explore the relationship between maternal-neonatal clinical data and the changes of cord blood amino acid and carnitine levels between pregnant women with gestational diabetes mellitus (GDM) when glycosylated hemoglobin levels of 5.5%-6.4% excluded diabetic medicine as GDMa group and the control group. Methods In all, 312 qualified participants were recruited with permission from the ethical department of the Fifth Affiliated Hospital of Sun Yat-Sen University and divided into two groups (GDMa and non-GDM) after adjusting for maternal age and body mass index (BMI) between the 1 June 2017 and 30 April 2020. All maternal-neonatal data were collected and analysed at the centre. Results Interestingly, glycine in cord blood was not only significantly different between groups(594.19 vs 407.45, P < 0.001), but also associated among those pregnant women in GDM when glycosylated hemoglobin levels of 5.5%-6.4% through the standard of diet control and exercise (b = 0.449, P = 0.010). Meanwhile, neonatal hypoglycemia had the positive association with GDM monitoring glycosylated hemoglobin levels of 5.5%-6.4% (P = 0.031, OR 5.77 95%CI[1.18, 28.36]), but none of correlations with umbilical cord blood of amino acids and carnitines. Conclusions The study identifies some differences and relationships in maternal-neonatal data only when GDMa group, glycosylated hemoglobin levels of 5.5%-6.4% without diabetic medicine, compared with the control group which adjusted by age and BMI. Particularly, umbilical cord blood of glycine levels is related to the diabetic status of glycosylated hemoglobin 5.5%-6.4% in GDM during pregnancy and could be potential diabetic mechanism by maternal-fetal interface.

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Newborn screening for carnitine palmitoyltransferase II deficiency using (C16 + C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity

Cited by 27 publications

References 25 publications

A novel homozygous missense SLC25A20 mutation in three CACT-deficient patients: clinical and autopsy data

A novel homozygous missense SLC25A20 mutation in three CACT-deficient patients: clinical and autopsy data

Harmonizing Newborn Screening Laboratory Proficiency Test Results Using the CDC NSQAP Reference Materials

Mid-late pregnancy maternal glycolipids in gestational diabetes mellitus (GDM) fluctuated in glycosylated hemoglobin levels of 5.5%-6.4% associated with umbilical cord blood of amino acid and carnitine profiles: a nested case-cohort observational study

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