Institutional experience of newborn screening for inborn metabolism disorders by tandem MS in the Turkish population

2020 ◽  
Vol 33 (6) ◽  
pp. 703-711
Author(s):  
Özlem Demirelce ◽  
Fehime Benli Aksungar ◽  
Neslihan Yildirim Saral ◽  
Meltem Kilercik ◽  
Mustafa Serteser ◽  
...  
Keyword(s):  
Amino Acid ◽  
Newborn Screening ◽  
Metabolic Disorders ◽  
Turkish Population ◽  
High Rate ◽  
Screening Tests ◽  
Acid Oxidation ◽  
Study Group ◽  
Tandem Ms ◽  
Inherited Metabolic Disorders

AbstractBackgroundThe tandem mass spectrometry method in the screening of congenital metabolic disorders is not included in routine national newborn screening programmes in Turkey. To evaluate the distribution of acylcarnitines and amino acid levels in normal newborns, establish acylcarnitine and amino acid cut-off levels and further preliminary results of inherited metabolic disorders inferentially in the Turkish population.MethodsNewborn screening tests performed by tandem MS from 2016 to 2018 were retrospectively reviewed. The study group included 17,066 newborns born in our hospitals located in various regions of Turkey. Blood samples were obtained from infants older than 24 h of age. Among the 17,066 newborns, the metabolic screening data of 9,994 full-term newborns (>37 weeks) were employed to obtain the percentile distribution of the normal population. The study group (17,066) was screened for 26 types of inborn error of metabolism.ResultsOur established cut-offs, were compared with the cut-offs determined by Region for Stork Study and Centers for Disease Control. Among the 26 screened disorders, a total of 12 cases (8 amino acid metabolism disorders, 1 urea cycle defect, 2 organic acidaemias and 1 fatty acid oxidation disorder) were identified.ConclusionsBecause of the high rate of consanguineous marriages in Turkey, the development of a nationwide screening panel is necessary for early detection and management of potentially treatable inherited metabolic disorders.

scholarly journals Diagnostic contribution of metabolic workup for neonatal inherited metabolic disorders in the absence of expanded newborn screening

2019 ◽  
Vol 9 (1) ◽  
Author(s):  
Alexandra Bower ◽  
Apolline Imbard ◽  
Jean-François Benoist ◽  
Samia Pichard ◽  
Odile Rigal ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Neonatal Intensive Care ◽  
Metabolic Disorders ◽  
Diagnostic Yield ◽  
Propionic Acidemia ◽  
University Hospital ◽  
High Rate ◽  
Maple Syrup ◽  
Inherited Metabolic Disorders ◽  
Neonatal Icu

Abstract Inherited metabolic disorders (IMDs) in neonates are a diagnostic and therapeutic challenge for the neonatologist, with the priority being to rapidly flag the treatable diseases. The objective of this study was to evaluate the contribution of targeted metabolic testing for diagnosing suspected IMDs on the basis of suggestive clinical setting or family history in neonates. We conducted an observational study over five years, from January 1st, 2010 to December 31, 2014 in the neonatal intensive care unit (NICU) at Robert Debré University Hospital, Paris, France. We assessed the number of neonates for whom a metabolic testing was performed, the indication for each metabolic test and the diagnostic yield of this selected metabolic workup for diagnosing an IMD. Metabolic testing comprised at least one of the following testings: plasma, urine or cerebrospinal fluid amino acids, urine organic acids, plasma acylcarnitine profile, and urine mucopolysaccharides and oligosaccharides. 11,301 neonates were admitted at the neonatal ICU during the study period. One hundred and ninety six neonates underwent metabolic testing. Eleven cases of IMDs were diagnosed. This diagnostic approach allowed the diagnosis, treatment and survival of 4 neonates (maple syrup urine disease, propionic acidemia, carnitine-acylcarnitine translocase deficiency and type 1 tyrosinemia). In total, metabolic testing was performed for 1.7% of the total number of neonates admitted in the NICU over the study period. These included 23% finally unaffected neonates with transient abnormalities, 5.6% neonates suffering from an identified IMD, 45.4% neonates suffering from a non-metabolic identified disease and 26% neonates with chronic abnormalities but for whom no final causal diagnosis could be made. In conclusion, as expected, such a metabolic targeted workup allowed the diagnosis of classical neonatal onset IMDs in symptomatic newborns. However, this workup remained normal or unspecific for 94.4% of the tested patients. It allowed excluding an IMD in 68.4% of the tested neonates. In spite of the high rate of normal results, such a strategy seems acceptable due to the severity of the symptoms and the need for immediate treatment when available in neonatal IMDs. However, its cost-effectiveness remains low especially in a clinically targeted population in a country where newborn screening is still unavailable for IMDs except for phenylketonuria in 2019.

scholarly journals Spectrum Analysis of Inherited Metabolic Disorders for Expanded Newborn Screening in a Central Chinese Population

2022 ◽  
Vol 12 ◽  
Author(s):  
Xia Li ◽  
Jun He ◽  
Ling He ◽  
Yudong Zeng ◽  
Xuzhen Huang ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Incidence Rate ◽  
Intellectual Development ◽  
Metabolic Disorders ◽  
Carnitine Deficiency ◽  
Acid Oxidation ◽  
Abnormal Growth ◽  
Inherited Metabolic Disorders ◽  
Expanded Newborn Screening ◽  
Confirmatory Tests

Neonatal inherited metabolic disorders (IMDs) are closely associated with early neonatal death and abnormal growth and development. Increasing attention has been paid to IMDs because of their high incidence and diversity. However, there are no reports about the incidence of IMDs in Changsha, China. Therefore, we retrospectively analyzed the screening results of neonates to evaluate the characteristics of IMDs in the area. From January 2016 to December 2020, 300,849 neonates were enrolled for expanded newborn screening by tandem mass spectrometry in the Neonatal Disease Screening Center of the Changsha Hospital for Maternal & Child Health Care. Newborns with mild initial results were recalled for repeated tests; if the second test was still positive, the patient was referred for confirmatory tests. A total of 71 confirmed cases were identified in our study, with an incidence rate of 1:4,237. There were 28 cases of amino acid metabolic disorders, representing 39.44% of the IMDs diagnosed, with an incidence rate of 1:10,745. Twelve newborns were diagnosed with organic acid metabolic disorders, accounting for 16.66% of IMDs, with an incidence rate of 1:25,071. There were 31 cases of fatty acid oxidation disorders, representing 43.05% of IMDs, with an incidence rate of 1:9,705. Overall, 14 types of IMDs were found in Changsha. The most common disorders in the region were primary carnitine deficiency, hyperphenylalaninemia and short-chain acyl-CoA dehydrogenase deficiency. Their incidence rate is respectively 1:13,675, 1:16,714 and 1:42,978. The mutations in PAH, SLC22A5, and ACADS are the leading causes of IMDs in this area. This study demonstrates the importance of utilizing MS/MS in IMD screening for early diagnosis and treatment. This strategy may be used for prenatal genetic counseling to avoid irreversible growth and intellectual development disorders in children.

INHERITED METABOLIC DISORDERS AND HEART DISEASES

2019 ◽  
Author(s):  
Vjekoslav Krželj ◽  
Ivana Čulo Čagalj
Keyword(s):  
Metabolic Disorders ◽  
Metabolic Diseases ◽  
Technological Development ◽  
Heart Diseases ◽  
Glycogen Storage ◽  
Acid Oxidation ◽  
Lysosomal Storage ◽  
Glycogen Storage Diseases ◽  
Coronary Diseases ◽  
Inherited Metabolic Disorders

Inherited metabolic disorders can cause heart diseases, cardiomyopathy in particular, as well as cardiac arrhythmias, valvular and coronary diseases. More than 40 different inherited metabolic disorders can provoke cardiomyopathy, including lysosomal storage disorders, fatty acid oxidation defects, organic acidemias, amino acidopathies, glycogen storage diseases, congenital disorders of glycosylation as well as peroxisomal and mitochondrial disorders. If identified and diagnosed on time, some of congenital metabolic diseases could be successfully treated. It is important to assume them in cases when heart diseases are etiologically undefined. Rapid technological development has made it easier to establish the diagnosis of these diseases. This article will focus on common inherited metabolic disorders that cause heart diseases, as well as on diseases that might be possible to treat.

scholarly journals OPTIMIZATION OF THE DIAGNOSTICS OF INHERITED METABOLIC DISORDERS WITH A POSITIVE RESULT OF EXTENDED NEWBORN SCREENING

2020 ◽  
Vol 10 (2(36)) ◽  
pp. 19-28
Author(s):  
T. K. Znamenska ◽  
O. V. Vorobiova ◽  
I. E. Kuzneczov ◽  
I. V. Lastivka ◽  
I. H. Samoylenko ◽  
...  
Keyword(s):  
Positive Result ◽  
Newborn Screening ◽  
Metabolic Disorders ◽  
Inherited Metabolic Disorders

PRENATAL NUTRITION OF LAMBS, BEARS—AND BABIES?

PEDIATRICS ◽  
1972 ◽  
Vol 50 (3) ◽  
pp. 357-358
Author(s):  
George F. Cahill
Keyword(s):  
Oxygen Consumption ◽  
Amino Acid ◽  
Calculated Data ◽  
High Rate ◽  
Co2 Production ◽  
Acid Oxidation ◽  
Prenatal Nutrition ◽  
Amino Acid Oxidation ◽  
Urea Production

The two superbly documented papers from the Battaglia group by James et al. and Gresham et al. are most provocative, since they challenge current dogma that glucose is the primary fetal fuel. As evidence, they present several indisputable observations: measured transplacental glucose difference accounts for only 40% of measured fetal oxygen consumption or CO2 production, and a surprisingly high rate of fetal urea production attests to a high rate of amino acid oxidation. The following Table summarizes both their directly determined and their calculated data with several further extrapolations by this reviewer, must have been transferred from mother to fetus.

Breast milk feeding in infants with inherited metabolic disorders other than phenylketonuria – a 10-year single-center experience

2017 ◽  
Vol 45 (3) ◽  
Author(s):  
Karin Pichler ◽  
Miriam Michel ◽  
Manuela Zlamy ◽  
Sabine Scholl-Buergi ◽  
Elisabeth Ralser ◽  
...  
Keyword(s):  
Breast Milk ◽  
Metabolic Control ◽  
Metabolic Disorders ◽  
Acid Oxidation ◽  
Published Data ◽  
Galactose Metabolism ◽  
Single Center Experience ◽  
Inherited Metabolic Disorders ◽  
Cycle Disorders ◽  
Milk Feeding

AbstractBackground:Published data on breast milk feeding in infants suffering from inherited metabolic disorders (IMDs) other than phenylketonuria (PKU) are limited and described outcome is variable.Objective:We aimed to evaluate retrospectively whether breastfeeding and/or breast milk feeding are feasible in infants with IMDs including organic acidemias, fatty acid oxidation disorders, urea cycle disorders, aminoacidopathies or disorders of galactose metabolism.Methods:Data on breastfeeding and breast milk feeding as well as monitoring and neurological outcome were collected retrospectively from our database of patients with the mentioned IMD, who were followed in our metabolic center within the last 10 years.Results:Twenty patients were included in the study, who were either breast fed on demand or received expressed breast milk. All the infants were evaluated clinically and biochemically at 2–4-week intervals, with weight gain as the leading parameter to determine metabolic control. Good metabolic control and adequate neurological development were achieved in all patients but one, who experienced the only metabolic crisis observed within the study period.Conclusion:Breast milk feeding with close clinical and biochemical monitoring is feasible in most IMD and should be considered as it offers nutritional and immunological benefits.

scholarly journals Screening for Inherited Metabolic Disorders: A New Look at Metabolic Screening Tests

1972 ◽  
Vol 9 (1-6) ◽  
pp. 103-108 ◽  
Author(s):  
J. W. T. Seakins ◽  
Makbule Haktan ◽  
B. C. Andrew ◽  
R. S. Ersser
Keyword(s):  
Inborn Errors Of Metabolism ◽  
Metabolic Disorders ◽  
Screening Tests ◽  
Inborn Errors ◽  
Inherited Metabolic Disorders ◽  
Metabolic Screening ◽  
New Look

Simple methods for the detection of inborn errors of metabolism which result in the accumulation of metabolites in blood or urine are described and the significance of abnormal findings reviewed.

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