Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:1.3.99.3 (acyl-CoA dehydrogenase)
 1,425 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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 in New South Wales, from 15 families. The casenotes of patients were reviewed, and where possible the mothers interviewed, either directly or by telephone, to obtain information about neonatal events. Six of the 16 confirmed cases had significant neonatal symptoms, with onset from 17 hours to 3 days of age. All required intravenous dextrose and four of the six needed other interventions, including hospital transfer. One baby died. All six were breast fed, but so were five of the eight asymptomatic neonates for whom information was available. Four of the six symptomatic neonates were homozygous for the common MCAD mutation, an A to G transition at position 985, and one was heterozygous. It is concluded that serious neonatal symptoms are common in MCAD. Newborn siblings of MCAD cases must have careful monitoring and support during the first few days of life.
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PMID:Neonatal symptoms in medium chain acyl coenzyme A dehydrogenase deficiency. 821 68

Among the many disorders of fatty acid beta-oxidation known today, the disorders of long-chain fatty acid oxidation are the most severe and life-threatening. One remarkable abnormality, not observed in, for instance, medium-chain acyl-CoA dehydrogenase deficiency, is the moderate to severe lactic acidaemia in long-chain fatty acid beta-oxidation-deficient patients, suggesting that oxidation of pyruvate is also compromised. In order to understand the underlying basis of the lactic acidaemia in these patients, we have studied the formation of L-lactate and pyruvate in cultured skin fibroblasts incubated with D-glucose. All long-chain fatty acid beta-oxidation-deficient cell lines studied were found to show a moderate elevation of lactate when compared with control and medium-chain acyl-CoA dehydrogenase-deficient fibroblasts. Interestingly, differences were found between cells deficient in long-chain 3-hydroxyacyl-CoA dehydrogenase and very-long-chain acyl-CoA dehydrogenase, suggesting that saturated acyl-CoA esters and their 3-hydroxyacyl-CoA derivatives affect pyruvate metabolism differently.
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PMID:Lactic acidosis in long-chain fatty acid beta-oxidation disorders. 976

Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is an autosomal recessive disorder of fatty acid oxidation. The majority of patients with VLCADD can be detected through newborn screening (NBS) with elevated levels of the tetradecanoyl carnitine species. An 11-month-old infant, diagnosed with late-onset VLCADD (genotype: T848C/G1322A) through newborn screening at birth, was admitted with emesis, severe lethargy, limpness in extremities, loss of muscle tone and an elevated CK level. He was mistakenly given Ketocal formula (about 8 g/kg per day long-chain fat-over six times his usual intake) instead of his usual Monogen formula for 2.5 days before being admitted. Once admitted, he was started on Monogen and IV (10% dextrose) fluids. He was discharged home after four days in the hospital without any sequelae of this accidental fat loading event. The report highlights several important points about this particular case and more generally about patients with VLCADD detected through NBS: (1) the amount of time in which patients might become severely symptomatic and the nature of these symptoms after fat loading; (2) the time frame for complete recovery after beginning of treatment; (3) the importance of alerting home-care companies and families about formula delivery errors and their repercussions.
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PMID:Very long-chain acyl-CoA dehydrogenase deficiency: the effects of accidental fat loading in a patient detected through newborn screening. 1933 79

A 2-year-old girl was brought to the Emergency Department having collapsed at home. She was unconscious and apnoeic with a sinus bradycardia of 50 beats/min. Cardiopulonary resuscitation (CPR) was commenced and her airway was secured. Epinephrine and atropine were administered. The blood glucose was found to be <0.5 mmol/l. There were minimal ketones found in both urine and serum. A bolus of 5 ml/kg of 10% dextrose was administered. Following a third cycle of CPR, a strong pulse was palpated with a sinus tachycardia. Subsequent metabolic screening tests confirmed a diagnosis of medium chain acyl-CoA dehydrogenase (MCAD) deficiency. Despite the higher prevalence of hypoglycaemia in children requiring non-trauma-related resuscitation care, there is significant variability in time to checking blood glucose. In any clinical situation necessitating fatty acid oxidation, such as periods of fasting or metabolic stress due to intercurrent illness or infection, patients with MCAD deficiency will have continued glucose consumption with reduced or absent formation of ketones. The result of this is severe hypoglycaemia and hypoketonuria. 18% of patients with MCAD deficiency present with sudden death, and total mortality rate before diagnosis is estimated at 24%. Without diagnosis, preventative interventions to avoid further metabolic decompensation and possible neurological involvement could not be made.
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PMID:Cardiac arrest in infancy: don't forget glucose! 2079 5

A 12-hours-old Paint filly was examined because of weakness and dull mentation after birth. Despite IV administered dextrose, the foal remained persistently hypoglycemic with increase in serum activity of muscle and liver enzymes. A postmortem diagnosis of lipid myopathy most similar to multiple acyl-CoA dehydrogenase deficiency (MADD) was confirmed by findings of myofiber lipid accumulation, elevated urine organic acids, and serum free acylcarnitines with respect to control foals. This report details a case of equine neonatal lipid storage myopathy with many biochemical characteristics of MADD. Lipid storage myopathies should be included as a differential diagnosis in foals with persistent weakness and hypoglycemia.
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PMID:Persistent hypoglycemia associated with lipid storage myopathy in a paint foal. 2995 35