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childhood and adulthood. Comorbidity of cardiomyopathy, arrhythmias and rhabdomyolysis are extremely common in patients under 1 year old which can lead to complications later in life. Loss of awareness or seizure can occur from hypoketotic hypoglycemia, which is often fatal if not caught in screening. However, prompt treatment shows high promise for improvement. People who develop late-onset myopathic may only experience muscle-related, vague, sporadic symptoms, and may never be diagnosed. There is an extremely high genotype-phenotype correlation in a presentation. Mitigation of VLCAD symptoms can be achieved through dietary management.
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can be altered via a variety of pathways. These can range from frameshift mutations, deletion mutations, insertion mutations, and missense mutations. All of which cause the enzyme to function differently in the mitochondria, or in some cases not at all. Due to this mutation, effective levels of very long-chain-acyl-CoA-dehydrogenase are low or absent in the body, giving rise to the array of symptoms listed above.
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malfunction or failure. Avoidance of fasting periods, high-fat diets, and dehydration is recommended for those who are affected. A diet consisting of low-fat intake and supplemental calories is common for management of VLCAD deficiency. If a metabolic crisis is not treated, a child with VLCAD can develop: breathing problems, seizures,
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Treatment and management of VLCAD deficiency involve dietary restrictions as well as implementation of proper hydration to avoid further complications. Hospitalization due to VLCAD deficiency can be treated with intravenous (IV) glucose for hydration and alkalization of urine and prevention of renal
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VLCAD deficiency is characterized as an inherited genetic disorder. The mutations that occur within the gene itself are recessive, meaning that an individual has to acquire both recessive mutated genes in order for the disease to manifest. There are various forms of the disease that can be manifested
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Medical screening can confirm occurrences of VLCAD most often in neonatal and infancy stages. Approximately half of all patients show signs of VLCAD deficiency during the neonatal period, one-fourth present later in the first year of infancy, and the final quarter is split between manifestations in
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It is common for babies and children with the early and childhood types of VLCAD to have episodes of illness known as metabolic crises. Some of the first symptoms of a metabolic crisis are: extreme sleepiness, behavior changes, irritable mood, poor appetite. Some of these other symptoms of VLCAD in
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VLCAD (very long-chain-acyl-dehydrogenase) deficiency is exclusively linked to genetic mutations in DNA. A change of the gene that codes for very long-chain-acyl-CoA-dehydrogenase (VLCAD) results in a deficiency or malfunction of the produced VLCAD enzyme. This mutation occurs on chromosome 17 and
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lead to inadequate levels of an enzyme called very long-chain acyl-coenzyme A (CoA) dehydrogenase. Without this enzyme, long-chain fatty acids from food and fats stored in the body cannot be degraded and processed. As a result, these fatty acids are not converted into energy, which can lead to
325:. Evaluation of symptom combinations can aid in a positive diagnosis of VLCAD. Since symptoms vary depending on age and onset of the patient, consultation with a metabolic specialist should be considered. Diagnosis is further confirmed through genetic analysis of the VLCAD gene.
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problems. Symptoms that begin later in childhood, adolescence, or adulthood tend to be milder and usually do not involve heart problems. Episodes of very long-chain acyl-coenzyme A dehydrogenase deficiency can be triggered by periods of fasting, illness, and exercise.
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characteristic signs and symptoms of this disorder, such as lethargy and hypoglycemia. Levels of very long-chain fatty acids or partially degraded fatty acids may build up in tissues and can damage the heart, liver, and muscles, causing more serious complications.
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Leslie, N. D.; Valencia, C. A.; Strauss, A. W.; Zhang, K.; Adam, M. P.; Ardinger, H. H.; Pagon, R. A.; Wallace, S. E.; Bean LJH; Stephens, K.; Amemiya, A. (1993). "Very Long-Chain Acyl-Coenzyme A Dehydrogenase
Deficiency".
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368:. In Pagon, Roberta A.; Adam, Margaret P.; Ardinger, Holly H.; Wallace, Stephanie E.; Amemiya, Anne; Bean, Lora J.H.; Bird, Thomas D.; Ledbetter, Nikki; Mefford, Heather C. (eds.).
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in infancy, adolescence, and adulthood. However, it is still unknown at to what causes the disease to manifest itself in the different life stages.
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Those affected by this disorder have inadequate levels of an enzyme that breaks down a group of fats called very long-chain fatty acids.
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573:"American College of Medical Genetics ACT Sheet" (PDF). American College of Medical Genetics. 2010. Retrieved October 8, 2019.
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Leslie, Nancy D.; Valencia, C. Alexander; Strauss, Arnold W.; Connor, Jessica A.; Zhang, Kejian (1993-01-01).
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Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency
Information for Healthcare Professionals" (PDF).
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which prevents the body from converting certain fats to energy, particularly during periods without food.
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Typically, initial signs and symptoms of this disorder occur during infancy and include low blood sugar (
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Very long-chain acyl-coenzyme: A dehydrogenase deficiency has an
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weakness. There is also a high risk of complications such as
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488:"Very Long Chain Acyl CoA Dehydrogenase Deficiency (LCAD)"
366:"Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency"
66:"Very long-chain acyl-coenzyme A dehydrogenase deficiency"
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Very long-chain acyl-coenzyme A dehydrogenase deficiency
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Very long-chain acyl-coenzyme A dehydrogenase deficiency
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372:. Seattle (WA): University of Washington, Seattle.
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57:. Unsourced material may be challenged and removed.
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18:Very-long-chain acyl-CoA dehydrogenase deficiency
832:Mitochondrial trifunctional protein deficiency
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117:Learn how and when to remove this message
561:. 8/13/2014. Retrieved October 16, 2019
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854:2,4 Dienoyl-CoA reductase deficiency
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1060:Oral and maxillofacial surgery
836:Acute fatty liver of pregnancy
338:, sometimes leading to death.
172:fatty-acid metabolism disorder
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1795:Autosomal recessive disorders
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1373:Neurosurgical anesthesiology
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462:Reference, Genetics Home.
392:Reference, Genetics Home.
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534:rarediseases.info.nih.gov
429:rarediseases.info.nih.gov
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1560:Transplantation medicine
1451:Clinical neurophysiology
1368:Obstetric anesthesiology
1288:Interventional radiology
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240:Hypoketotic Hypoglycemia
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394:"VLCAD deficiency"
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40:This article
38:
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29:
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19:
1684:Rural health
1669:Nanomedicine
1220:Rheumatology
1151: /
1070:Hand surgery
1055:Neurosurgery
821:
810:Medium-chain
796:
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690:Inborn error
640:
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586:GeneReviews
585:
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542:. Retrieved
538:the original
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510:. Retrieved
506:the original
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471:. Retrieved
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437:. Retrieved
433:the original
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401:. Retrieved
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359:
345:
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323:hypoglycemia
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282:hypoglycemia
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200:hepatomegaly
190:hypoglycemia
184:
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49:Please help
44:verification
41:
1754:Wikiproject
1543:Venereology
1488:Neonatology
1385:Dermatology
1240:Gynaecology
1232:gynaecology
1215:Pulmonology
1033:Eye surgery
995:Specialties
846:Unsaturated
804:Short-chain
722:Degradation
382:update 2014
370:GeneReviews
204:muscle pain
140:Other names
1789:Categories
1516:Psychiatry
1502:(PM&R)
1495:Phlebology
1483:Pediatrics
1310:Anatomical
1275:Diagnostic
1255:Obstetrics
1205:Nephrology
1190:Hematology
1185:Geriatrics
1178:Hepatology
1163:Cardiology
1153:Immunology
913:acetyl-CoA
544:2019-11-13
512:2018-04-17
473:2018-04-17
439:2018-04-17
403:2017-02-27
351:References
107:March 2017
77:newspapers
1704:Physician
1588:education
1446:Neurology
1441:Narcology
1305:Pathology
1283:Radiology
1158:Angiology
1122:Andrology
865:Odd chain
782:oxidation
741:Carnitine
732:transport
705:Synthesis
647:237997005
642:SNOMED CT
342:Prognosis
329:Treatment
276:Diagnosis
1734:Category
1210:Oncology
1141:medicine
1139:Internal
987:Medicine
932:Aldehyde
834:(MTPD):
594:20301763
378:20301763
319:vomiting
315:diarrhea
286:lethargy
254:Genetics
221:vomiting
195:lethargy
1774:Outline
1744:Commons
1689:Therapy
1586:Medical
1149:Allergy
1117:Urology
1010:Surgery
892:(HADHD)
856:(DECRD)
790:General
288:), and
91:scholar
1764:Portal
1631:MD–PhD
898:(MADD)
824:VLCADD
636:277.85
592:
376:
311:nausea
290:muscle
261:ACADVL
245:Causes
143:VLCADD
93:
86:
79:
72:
64:
1346:Other
942:(SLS)
923:(MCD)
883:Other
818:LCHAD
812:MCADD
806:SCADD
771:(ALD)
762:CACTD
714:(BTD)
307:fever
298:heart
294:liver
231:Death
170:is a
98:JSTOR
84:books
780:Beta
757:CDSP
752:CPT2
747:CPT1
730:Acyl
631:9-CM
590:PMID
374:PMID
336:coma
265:gene
226:Coma
70:news
1080:ENT
998:and
692:of
627:ICD
53:by
1791::
1419:/
910:To
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