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[Multiple acyl-CoA dehydrogenase deficiency. Report of 2 siblings]
N Guffon1, C Vianey-Saban, J C Berthier
1Service de pédiatrie et génétique, hôpital Debrousse, Lyon, France.
Pediatrie
|January 1, 1993
Insights
Multiple acyl-CoA dehydrogenase deficiency (MADD) can be fatal, as seen in one sibling who died from Reye's syndrome. Early diagnosis and treatment with glucose and carnitine can prevent acute attacks in affected infants.
Area of Science:
- Biochemistry
- Genetics
- Metabolic Disorders
Background:
- Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare inherited metabolic disorder.
- It affects the body's ability to break down fatty acids for energy.
- MADD can lead to severe health complications, including neurological damage and sudden death.
Observation:
- The study presents two siblings diagnosed with MADD.
- The first sibling passed away at nine months old due to Reye's syndrome.
- The second sibling received a neonatal diagnosis of MADD.
Findings:
- Early diagnosis is crucial for managing MADD.
- Treatment involves glucose supplementation to prevent hypoglycemia.
- Carnitine supplementation aids in fatty acid metabolism.
Implications:
- Prompt treatment can prevent life-threatening acute attacks in infants with MADD.
- Understanding MADD's presentation aids in early identification and intervention.
- This case highlights the importance of metabolic screening in newborns.
Abstract:
The authors report on two siblings with a multiple acyl-CoA dehydrogenase deficiency. The first child died from a Reye's syndrome when he was 9 month-old. The diagnosis was made in the neonatal period in his brother. Early treatment with glucose and carnitine should prevent acute attacks.