Medium-chain acyl-CoA dehydrogenase deficiency does not correlate with apparent life-threatening events and the sudden infant death syndrome: results from phenylpropionate loading tests and DNA analysis

Penzien, Johannes M.; Molz, G; Wiesmann, Ulrich; Colombo, Jean‐Pierre; Bühlmann, Roman; Wermuth, Bendicht

doi:10.1007/bf01956418

Cited by 13 publications

(2 citation statements)

References 28 publications

(30 reference statements)

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“…4,38,110 Although abnormalities of blood glucose can occur from various IEMs, such as medium-chain acyl-coenzyme A dehydrogenase deficiency or other fatty acid oxidation disorders, their prevalence has not been increased in SIDS and near-miss SIDS but could be considered as a cause of higher-risk BRUEs. 111 It is important to clarify through a careful medical history evaluation that the infant was not potentially hypoglycemic at discovery of the event and improved because of enteral treatment, because these disorders will not typically selfresolve without intervention (ie, feeding).…”

Section: Serum Glucosementioning

confidence: 99%

Brief Resolved Unexplained Events (Formerly Apparent Life-Threatening Events) and Evaluation of Lower-Risk Infants

Tieder¹,

Bonkowsky²,

Etzel³

et al. 2016

Pediatrics

141

154

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This is the fi rst clinical practice guideline from the American Academy of Pediatrics that specifi cally applies to patients who have experienced an apparent life-threatening event (ALTE). This clinical practice guideline has 3 objectives. First, it recommends the replacement of the term ALTE with a new term, brief resolved unexplained event (BRUE). Second, it provides an approach to patient evaluation that is based on the risk that the infant will have a repeat event or has a serious underlying disorder. Finally, it provides management recommendations, or key action statements, for lower-risk infants. The term BRUE is defi ned as an event occurring in an infant younger than 1 year when the observer reports a sudden, brief, and now resolved episode of ≥1 of the following: (1) cyanosis or pallor; (2) absent, decreased, or irregular breathing; (3) marked change in tone (hyper-or hypotonia); and (4) altered level of responsiveness. A BRUE is diagnosed only when there is no explanation for a qualifying event after conducting an appropriate history and physical examination. By using this defi nition and framework, infants younger than 1 year who present with a BRUE are categorized either as (1) a lower-risk patient on the basis of history and physical examination for whom evidence-based recommendations for evaluation and management are offered or (2) a higher-risk patient whose history and physical examination suggest the need for further investigation and treatment but for whom recommendations are not offered. This clinical practice guideline is intended to foster a patient-and family-centered approach to care, reduce unnecessary and costly medical interventions, improve patient outcomes, support implementation, and provide direction for future research. Each key action statement indicates a level of evidence, the benefi t-harm relationship, and the strength of recommendation.

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Section: Serum Glucosementioning

confidence: 99%

Brief Resolved Unexplained Events (Formerly Apparent Life-Threatening Events) and Evaluation of Lower-Risk Infants

Tieder¹,

Bonkowsky²,

Etzel³

et al. 2016

Pediatrics

141

154

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“…The most prevalent mutation causing MCAD deficiency is A985G. 8 There are at least 9 studies investigating a SIDS population with regard to this mutation, and together these include 2587 SIDS cases and 4636 con- trol cases [9][10][11][12][13][14][15][16][17] (Table 1). A985G heterozygosity was found in only 0.54% of the SIDS cases, compared with 0.84% of the control cases.…”

Section: Fatty Acid Metabolismmentioning

confidence: 99%

The Sudden Infant Death Syndrome Gene: Does It Exist?

2004

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ABSTRACT. Background. Sudden infant death syndrome (SIDS) is in a difficult position between the legal and medical systems. In the United Kingdom, prosecutors have for years applied the simple rule that 1 unexpected death in a family is a tragedy, 2 are suspicious, and 3 are murder. However, it seems that the pendulum has now swung to the opposite extreme; mutations or polymorphisms with unclear biological significance are accepted in court as possible causes of death. This development makes research on genetic predisposing factors for SIDS increasingly important, from the standpoint of the legal protection of infants. The genetic component of sudden infant death can be divided into 2 categories, ie (1) mutations that give rise to genetic disorders that constitute the cause of death by themselves and (2) polymorphisms that might predispose infants to death in critical situations. Distinguishing between these 2 categories is essential, and cases in which a mutation causing a lethal genetic disorder is identified should be diagnosed not as SIDS but as explained death.Genetic Alterations That May Cause Sudden Infant Death. Deficiencies in fatty acid metabolism have been extensively studied in cases of SIDS, and by far the most well-investigated mutation is the A985G mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene, which is the most prevalent mutation causing MCAD deficiency. However, <1% of sudden infant death cases investigated have this mutation, and findings of biochemical profiles seen in specific fatty acid oxidation disorders in a number of such cases emphasize the importance of investigating fatty acid oxidation disorders other than MCAD deficiency. Severe acute hypoglycemia may cause sudden death among infants, but only rare novel polymorphisms have been found when key proteins involved in the regulation of blood glucose levels are investigated in cases of SIDS. The long QT syndrome (LQTS) is another inherited condition proposed as the cause of death in some cases of sudden infant death. The LQTS is caused by mutations in genes encoding cardiac ion channels, and mutations in the genes KVLQT1 and SCNA5 have been identified in cases initially diagnosed as SIDS, in addition to several polymorphisms in these 2 genes and in the HERG gene. In addition, genetic risk factors for thrombosis were investigated in a small number of SIDS cases; the study concluded that venous thrombosis is not a major cause of sudden infant death. Conclusions. All mutations giving rise to metabolic disorders known to be associated with life-threatening events are possible candidates for genes involved in cases of sudden infant death, either as a cause of death or as a predisposing factor. It is necessary to distinguish between lethal mutations leading to diseases such as MCAD and LQTS, and polymorphisms (for instance, in the IL-10 gene and mtDNA) that are normal gene variants but might be suboptimal in critical situations and thus predispose infants to sudden infant death. It is unlikely that one mutation or polymorphism...

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Sudden and Unexpected Deaths in Infants and Sudden Infant Death Syndrome

Bajanowski¹,

Vennemann²

2014

Handbook of Forensic Medicine

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Medium-chain acyl-CoA dehydrogenase deficiency does not correlate with apparent life-threatening events and the sudden infant death syndrome: results from phenylpropionate loading tests and DNA analysis

Cited by 13 publications

References 28 publications

Brief Resolved Unexplained Events (Formerly Apparent Life-Threatening Events) and Evaluation of Lower-Risk Infants

Brief Resolved Unexplained Events (Formerly Apparent Life-Threatening Events) and Evaluation of Lower-Risk Infants

The Sudden Infant Death Syndrome Gene: Does It Exist?

Sudden and Unexpected Deaths in Infants and Sudden Infant Death Syndrome

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