Medium-Chain Acyl-Coa Dehydrogenase Deficiency: Postmortem Diagnosis in a Case of Sudden Infant Death and Neonatal Diagnosis of an Affected Sibling

Bennett, Michael J.; Rinaldo, Piero; Millington, David S.; Tanaka, Kay; Yokota, Ichiro; Coates, Paul M.

doi:10.3109/15513819109065485

Cited by 29 publications

(13 citation statements)

References 13 publications

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“…Thus, the level of odd-chain acylcarnitine (representing intermediates in the BCAA catabolism), such as C5, is lower because it reflects a switch in substrate preference in favor of fatty acid over BCAA rather than hypermetabolism. An altered acylcarnitine metabolism has been reported in the inherited deficiency of enzyme activities in ␤-oxidation, such as medium-chain acyl-CoA dehydrogenase deficiency (22)(23)(24)(25)(26)(27), verylong-chain acyl-CoA dehydrogenase deficiency (28), long-chain hydroxyacyl-CoA dehydrogenase deficiency (29), and systemic carnitine deficiency (28,(30)(31)(32). However, the acylcarnitine profile of V1aRϪ/Ϫ mice was different from the profiles of disorders including deficiencies in these enzymes.…”

Section: Discussionmentioning

confidence: 99%

Hypermetabolism of Fat in V1a Vasopressin Receptor Knockout Mice

Hiroyama

Aoyagi

Fujiwara

et al. 2007

Molecular Endocrinology

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[Arg8]Vasopressin (AVP) has an antilipolytic action on adipocytes, but little is known about the mechanisms involved. Here, we examined the involvement of the V1a receptor in the antilipolytic effect of AVP using V1a receptor-deficient (V1aR-/-) mice. The levels of blood glycerol were increased in V1aR-/- mice. The levels of ketone bodies, such as acetoacetic acid and 3-hydroxybutyric acid, the products of the lipid metabolism, were increased in V1aR-/- mice under a fasting condition. Triacylglyceride and free fatty acid levels in blood were decreased in V1aR-/- mice. Furthermore, measurements with tandem mass spectrometry determined that carnitine and acylcarnitines in serum, the products of beta-oxidation, were increased in V1aR-/- mice. Most acylcarnitines were increased in V1aR-/- mice, especially in the case of 2-carbon (C2), C10:1, C10, C14:1, C16, C18:1, and hydroxy-18:1-carbon (OH-C18:1)-acylcarnitines under feeding rather than under fasting conditions. The analysis of tissue C2-acylcarnitine level showed that beta-oxidation was promoted in muscle under the feeding condition and in liver under the fasting condition. An in vitro assay using brown adipocytes showed that the cells of V1aR-/- mice were more sensitive to isoproterenol for lipolysis. These results suggest that the lipid metabolism is enhanced in V1aR-/- mice. The cAMP level was enhanced in V1aR-/- mice in response to isoproterenol. The phosphorylation of Akt by insulin stimulation was reduced in V1aR-/- mice. These results suggest that insulin signaling is suppressed in V1aR-/- mice. In addition, the total bile acid, taurine, and cholesterol levels in blood were increased, and an enlargement of the cholecyst was observed in V1aR-/- mice. These results indicated that the production of bile acid was enhanced by the increased level of cholesterol and taurine. Therefore, these results indicated that AVP could modulate the lipid metabolism by the antilipolytic action and the synthesis of bile acid via the V1a receptor.

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Section: Discussionmentioning

confidence: 99%

Hypermetabolism of Fat in V1a Vasopressin Receptor Knockout Mice

Hiroyama

Aoyagi

Fujiwara

et al. 2007

Molecular Endocrinology

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“…By providing a clearer understanding of the nature and cause of the illness, the results of autopsy may assist in the grieving process by reassuring family members that action or inaction by them did not contribute to the death. In some instances, direct benefits will include the disclosure of genetic disease, such as haemochromatosis 10 , 13 and medium‐chain acyl‐CoA dehydrogenase deficiency 14 …”

Section: The Value Of Autopsiesmentioning

confidence: 99%

The decline of the hospital autopsy: a safety and quality issue for healthcare in Australia

Davies

Graves

Landgren

et al. 2004

Medical Journal of Australia

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Even with new diagnostic modalities, autopsy remains an important tool for quality and safety assurance. A systematic review of reports from 1996 to 2002 found autopsies detected, on average, 23.5% of clinically missed diagnoses involving the principal or underlying cause of death, and 9% of errors that would or could have affected the patient's outcome. We surveyed pathology laboratories and hospital administrators across Australia, and found a decline in the hospital autopsy rate from 21% (210/1000 deaths) in 1992–93 to 12% (118/1000 deaths) in 2002–03. This decrease is in adult autopsies (66% of all autopsies in 1992–93; 39% in 2002–03). Perinatal autopsies increased from 29% to 58% of all autopsies in this period, mainly due to more examinations of fetuses less than 20 weeks’ gestation. Factors contributing to this decline may include community attitudes, clinicians’ reluctance to request autopsy (partly because of administrative burdens in making the request), hospital concern about legal action if a misdiagnosis is detected, and funding priorities. Reversing this decline will require cooperative action at several levels of the healthcare system, and from government bodies.

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“…21,22 Several studies have also retrospectively documented MCADD in infants who had previously received a diagnosis of sudden infant death syndrome. [23][24][25] Unlike some other metabolic diseases, the complications of MCADD are preventable. If infants are detected before a life-threatening episode, then they can be treated by instructing the parents to avoid fasting stress and provide calories through oral feedings every 4 to 6 hours in the first years of life.…”

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confidence: 99%