Neonatal symptoms in medium chain acyl coenzyme A dehydrogenase deficiency.

doi:10.1136/adc.69.3_spec_no.292

Back to search

Article

Neonatal symptoms in medium chain acyl coenzyme A dehydrogenase deficiency.

Archives of disease in childhood - 1 Sept 1993

Wilcken B, Carpenter K H, Hammond J

Abstract excerpt

Medium chain acyl coenzyme A dehydrogenase (MCAD) deficiency has not been thought to be associated with significant neonatal symptoms. To determine the validity of this, all known MCAD cases from New South Wales were reassessed. A total of 16 confirmed and three presumed cases has been identified...

Topics

Acyl-CoA Dehydrogenase
Fatty Acid Desaturases
Female
Humans
Hypoglycemia
Infant, Newborn
Male
Muscle Hypotonia
Mutation
Sleep Stages
Vomiting

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.