Diagnosis of Carnitine Deficiency in Extremely Preterm Neonates Related to Parenteral Nutrition: Two Step Newborn Screening Approach

Ramaswamy, Mamatha; Skrinska, Victor; Mitri, Rola Fayez; Abdoh, Ghassan

doi:10.3390/ijns5030029

Cited by 9 publications

(12 citation statements)

References 13 publications

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“…RDS in neonates, is still a primary etiology of morbimortality in preterm infants and it is considered one of the main etiology of NICU admission [8] . Carnitine plays an essential role in β oxidation as it transports long chain fatty acids across the mitochondrial membrane [9] . Reduction in neonatal serum carnitine levels in preterm infants with RDS throughout the first week of life, which may be due to the increasing consumption of carnitine in lung tissue for surfactant synthesis and may be owing to low levels of α-butyrobetaine hydroxylase, a catalyzing enzyme in the last step of the carnitine biosynthesis [7] .…”

Section: Discussionmentioning

confidence: 99%

Serum Carnitine Levels in Preterm Infants with Respiratory Distress Syndrome

Ghoniem

Elsamanoudy

2021

International Journal of Medical Arts

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Background: Respiratory distress syndrome [RDS] is among the most common diseases in preterm infants. Numerous causes of RDS have been recently diagnosed and researchers have identified the presence of low serum carnitine in preterm infants with RDS.The aim of this study: to evaluate serum carnitine levels in preterm infants with RDS.Patients and methods: Eighty preterm infants were divided into two groups; group 1 consisted of 50 preterm with RDS in the first 6h of life constituted Group [A] as they were preterm infants with RDS with normal serum carnitine levels while Group [B] represented infants with carnitine deficiency. Control group 2 consisted of 30 preterm infants without RDS in the first 6 h of life. All cases and their mothers included in the study were subjected to a thorough history taking, thorough clinical examination and measurement of serum carnitine. Results:The cases groups had significantly lower serum L-carnitine than the controls group [25.56 ± 11.14 vs. 34.53 ± 2.54], and carnitine deficiency in RDS cases [32%]. Concerning weight, cases with carnitine deficiency had higher weight than cases with normal carnitine and control. With regard to clinical manifestations, there was a statistically significant difference between the cases subgroups in Down score indicting severe RDS in cases with carnitine deficiency. There was a statistically significant difference among cases subgroups regarding radiological findings. The cases with carnitine deficiency had worse X-ray, more need for surfactant therapy and MV than the cases with normal carnitine. Conclusion:Preterm neonates with RDS were demonstrated to be associated with a significant reduction in carnitine level compared to RDS-free preterm ones.

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Section: Discussionmentioning

confidence: 99%

Serum Carnitine Levels in Preterm Infants with Respiratory Distress Syndrome

Ghoniem

Elsamanoudy

2021

International Journal of Medical Arts

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“…Efforts have allowed NBS programs to emerge, resulting from pilot programs and successful studies [ 45 , 46 , 47 ]. However, to date, only Qatar and Saudi Arabia have included PCD in their programs [ 48 , 49 , 50 ].…”

Section: Worldwide Overview Of Primary Carnitine Deficiency Newborn S...mentioning

confidence: 99%

Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France

Lefèvre

Labarthe

Dufour

et al. 2023

IJNS

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Primary Carnitine Deficiency (PCD) is a fatty acid oxidation disorder that will be included in the expansion of the French newborn screening (NBS) program at the beginning of 2023. This disease is of high complexity to screen, due to its pathophysiology and wide clinical spectrum. To date, few countries screen newborns for PCD and struggle with high false positive rates. Some have even removed PCD from their screening programs. To understand the risks and pitfalls of implementing PCD to the newborn screening program, we reviewed and analyzed the literature to identify hurdles and benefits from the experiences of countries already screening this inborn error of metabolism. In this study, we therefore, present the main pitfalls encountered and a worldwide overview of current practices in PCD newborn screening. In addition, we address the optimized screening algorithm that has been determined in France for the implementation of this new condition.

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“…135 Preterm infants are at risk for relative deficiency of carnitine because of their dependence on lipids as an energy source and limited endogenous synthetic ability, although the clinical need is still unproven. 136 Carnitine is detectable in HM and is currently added to standard term and preterm formulas. 137 In preterm infants not receiving supplemental carnitine, plasma and tissue carnitine levels may fall even in the presence of adequate precursor amino acid concentrations.…”

Section: Long-chain Polyunsaturated Fas In Hmmentioning

confidence: 99%

“…137 In preterm infants not receiving supplemental carnitine, plasma and tissue carnitine levels may fall even in the presence of adequate precursor amino acid concentrations. 136,138 Yaron et al 139 showed that infants fed with a formula supplemented with β-16:0 for 6 weeks showed more Lactobacillus and Bifidobacterium genera in their stools than a control group that received formula containing vegetable-sourced 16:0. The mechanisms are unclear, but there is a possibility that the position of palmitic acid on the TAGs may have influenced that gut microbiome.…”

Section: Long-chain Polyunsaturated Fas In Hmmentioning

confidence: 99%

Fats in Human Milk: 2022 Updates on Chemical Composition

Maheshwari¹

2022

Newborn

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Human milk (HM) feedings are important for all newborn infants. Healthy term infants grow well with the mother's own milk (MOM), be it in direct breastfeeding or when fed expressed breastmilk. Premature and ill infants being treated/monitored in neonatal intensive care units (NICUs) also recover better when fed with HM diets, which can include MOM, donor milk (DM), or a combination of both. In terms of chemical composition, it contains 3-5% fat, 0.8-0.9% protein, 6.9-7.2% carbohydrates (calculated as lactose), and 0.2% mineral constituents. In this review, we present the latest information on HM fats, including triglycerides, phospholipids, triglycerides, cholesterol, glycoproteins, and enzymes. This article is intended to initiate a series of periodic updates on the scientific information available on HM fats. It contains some of our own research findings with an extensive review of the literature. To avoid bias in the identification of studies, keywords were short-listed a priori from anecdotal experience and from PubMed's Medical Subject Heading (MeSH) thesaurus. We then searched the databases PubMed, EMBASE, and Science Direct.

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Diagnosis of Carnitine Deficiency in Extremely Preterm Neonates Related to Parenteral Nutrition: Two Step Newborn Screening Approach

Cited by 9 publications

References 13 publications

Serum Carnitine Levels in Preterm Infants with Respiratory Distress Syndrome

Serum Carnitine Levels in Preterm Infants with Respiratory Distress Syndrome

Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France

Fats in Human Milk: 2022 Updates on Chemical Composition

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