Review
doi: 10.1016/s0022-3476(05)80353-1.
A fatal neonatal case of medium-chain acyl-coenzyme A dehydrogenase deficiency with homozygous A-->G985 transition
Affiliations
- PMID: 1447668
- DOI: 10.1016/s0022-3476(05)80353-1
Item in Clipboard
Review
A fatal neonatal case of medium-chain acyl-coenzyme A dehydrogenase deficiency with homozygous A-->G985 transition
J Pediatr.
1992 Dec.
Abstract
A term neonate became lethargic and hypotonic at 46 hours of age and died 10 hours later despite supportive therapy. Urinary organic acids indicated medium-chain acyl-coenzyme A dehydrogenase deficiency, and DNA studies confirmed this disorder. Neonatal symptoms in this enzyme deficiency have rarely been reported, and recent reviews have ignored or discounted this presentation.
Similar articles
-
Sudden child death and 'healthy' affected family members with medium-chain acyl-coenzyme A dehydrogenase deficiency.Pediatrics. 1986 Dec;78(6):1052-7. Pediatrics. 1986. PMID: 3786030
-
Neonatal onset of medium-chain acyl-coenzyme A dehydrogenase deficiency with confusing biochemical features.J Pediatr. 1995 Jan;126(1):65-8. doi: 10.1016/s0022-3476(95)70504-x. J Pediatr. 1995. PMID: 7815228
-
Medium chain acyl-coenzyme A dehydrogenase deficiency.N J Med. 1992 Sep;89(9):675-8. N J Med. 1992. PMID: 1436730 Review.
-
Medium-chain acylcoenzyme-A dehydrogenase deficiency. Not just another Reye syndrome.Am J Forensic Med Pathol. 1993 Dec;14(4):313-8. doi: 10.1097/00000433-199312000-00008. Am J Forensic Med Pathol. 1993. PMID: 8116590
-
Medium chain acyl-coenzyme A dehydrogenase deficiency and SIDS.N J Med. 1992 May;89(5):385-92. N J Med. 1992. PMID: 1635678 Review.
Cited by
-
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.Eur J Pediatr. 1994 May;153(5):352-7. doi: 10.1007/BF01956418. Eur J Pediatr. 1994. PMID: 8033926
-
Sudden Death of a Four-Day-Old Newborn Due to Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiencies and a Systematic Literature Review of Early Deaths of Neonates with Fatty Acid Oxidation Disorders.Int J Neonatal Screen. 2025 Jan 26;11(1):9. doi: 10.3390/ijns11010009. Int J Neonatal Screen. 2025. PMID: 39982343 Free PMC article. Review.
-
Neonatal symptoms in medium chain acyl coenzyme A dehydrogenase deficiency.Arch Dis Child. 1993 Sep;69(3 Spec No):292-4. doi: 10.1136/adc.69.3_spec_no.292. Arch Dis Child. 1993. PMID: 8215568 Free PMC article.
-
A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death.J Clin Invest. 1994 Oct;94(4):1477-83. doi: 10.1172/JCI117486. J Clin Invest. 1994. PMID: 7929823 Free PMC article.
-
Morbidity and mortality in medium chain acyl coenzyme A dehydrogenase deficiency.Arch Dis Child. 1994 May;70(5):410-2. doi: 10.1136/adc.70.5.410. Arch Dis Child. 1994. PMID: 8017963 Free PMC article.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Medical
