Neonatal onset of medium-chain acyl-coenzyme A dehydrogenase deficiency with confusing biochemical features,☆☆,

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Abstract

A female neonate was seen because of shock, ketosis, and undetectable blood glucose. Initial urinary findings indicated the possibility of a defect of fatty acid β-oxidation; subsequent studies showed that she had medium-chain acyl- coenzyme A dehydrogenase deficiency. This case highlights the fact that the initial symptoms may occur in the first few days of life, and that the presence of ketosis does not exclude the possibility of a fatty acid oxidation defect; the profiles of urinary organic acids and acylglycines may not be characteristic at that time. (J PEDIATR 1995;126:65-8)

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CASE REPORT

The infant, the second child of unrelated Australian parents, was born by spontaneous vaginal delivery at term after an uncomplicated pregnancy. Apgar scores were 9 and 10 at 1 and 5 minutes, respectively. Birth weight was 3020 gm. She breast fed well for the first day of life and was discharged home at 36 hours of age. However, she then fed poorly and became progressively irritable and lethargic. She was examined at home the next morning by a community nurse, having slept through the night

Urinary organic acids and acylglycines

Trimethylsilyl derivatives of urinary organic acids were analyzed by capillary gas chromatography-mass spectrometry on a Hewlett-Packard MSD system using an HP1 column. Derivatized urine was applied to the column according to the creatinine value. Hexanoylglycine was estimated with postscan data acquired from the analysis of the urinary organic acid profile. The combined areas of three characteristic ions of the two trimethylsilyl derivatives, and the area of the characteristic ion for the

Urinary organic acids and acylglycines

Initial urinary organic acid analysis on day 2 (Figure) showed large amounts of hexanedioate (adipate), moderate amounts of lactate, 3-hydroxybutyrate, acetoacetate, octanedioate (suberate), decanedioate (sebacate), octenedioate, decenedioate, and 3-hydroxydecanedioate. The octanedioylglycine (suberylglycine) concentration was slightly elevated. The hexanoylglycine concentration, though estimated at 6 μmol/ mmol creatinine, was thought not to be significantly elevated in the presence of a

DISCUSSION

The initial urinary findings in our patient were confusing, with prominent ketosis (unusual in the neonatal period and unusual in MCAD deficiency) in association with a pattern suggestive of a defect of long-chain fatty acid β-oxidation. Characteristic metabolites seen in the urine of patients with MCAD deficiency include hexanedioate (adipate), octanedioate (suberate), and decanedioate (sebacate), as well as hexanoylglycine and octanedioylglycine (suberylglycine).3 Phenylpropionylglycine is

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From the Department of Paediatrics and Child Health, University of Sydney, Sydney, Australia, and the Oliver Latham Laboratory, Royal Alexandra Children's Hospital, Camperdown, Australia.

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Reprint requests: John Christodoulou, MBBS, PhD, University Teaching Unit, Royal Alexandra Children's Hospital, Pyrmont Bridge Rd., Camperdown, New South Wales 2050 Australia.

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