BIOMAT Database Logo BIOMAT Database Logo

Diagnosis, treatment, and long-term outcomes of late-onset (type III) multiple acyl-CoA dehydrogenase deficiency. 2010

Laura M Pollard, and Nolan R Williams, and Lesby Espinoza, and Tim C Wood, and Elaine B Spector, and Richard J Schroer, and Kenton R Holden
Greenwood Genetic Center, Greenwood, South Carolina, USA.

We report 4 children with late-onset (type III) multiple acyl-CoA dehydrogenase deficiency, also known as glutaric aciduria type II, which is an autosomal recessive disorder of fatty acid and amino acid metabolism. The underlying deficiency is in the electron transfer flavoprotein or electron flavoprotein dehydrogenase. Clinical presentations include fatal acute neonatal metabolic encephalopathies with/without organ system anomalies (types I and II) and late-onset acute metabolic crises, myopathy, or neurodevelopmental delays (type III). Two patients were identified in childhood following a metabolic crisis and/or neurodevelopmental delay, and 2 were identified by newborn metabolic screening. Our cases will illustrate the difficulty in making a biochemical diagnosis of late-onset (type III) multiple acyl-CoA dehydrogenase deficiency from plasma acylcarnitines and urine organic acids in both symptomatic and asymptomatic children. However, they emphasize the need for timely diagnosis to urgently implement prophylactic treatment for life-threatening metabolic crises with low protein/fat diets supplemented with riboflavin and carnitine.

UI MeSH Term Description Entries
D008297 Male Males
D008403 Mass Screening Organized periodic procedures performed on large groups of people for the purpose of detecting disease. Screening,Mass Screenings,Screening, Mass,Screenings,Screenings, Mass
D008659 Metabolic Diseases Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed) Thesaurismosis,Diseases, Metabolic,Disease, Metabolic,Metabolic Disease,Thesaurismoses
D001928 Brain Diseases, Metabolic Acquired or inborn metabolic diseases that produce brain dysfunction or damage. These include primary (i.e., disorders intrinsic to the brain) and secondary (i.e., extracranial) metabolic conditions that adversely affect cerebral function. Central Nervous System Metabolic Disorders,Encephalopathies, Metabolic,Metabolic Disorders, Brain,Acquired Metabolic Diseases, Brain,Acquired Metabolic Diseases, Nervous System,Acquired Metabolic Encephalopathies,Brain Diseases, Metabolic, Acquired,Brain Disorders, Metabolic,Brain Disorders, Metabolic, Acquired,Brain Syndrome, Metabolic,Brain Syndrome, Metabolic, Acquired,CNS Metabolic Disorders,CNS Metabolic Disorders, Acquired,Encephalopathy, Metabolic, Acquired,Metabolic Brain Diseases,Metabolic Brain Diseases, Acquired,Metabolic Brain Syndrome,Metabolic Brain Syndrome, Acquired,Metabolic Brain Syndromes,Metabolic Brain Syndromes, Acquired,Metabolic Diseases, Acquired, Nervous System,Metabolic Disorder, Central Nervous System, Acquired,Metabolic Disorders, CNS,Metabolic Disorders, CNS, Acquired,Metabolic Disorders, Central Nervous System,Metabolic Encephalopathies,Nervous System Acquired Metabolic Diseases,Acquired Metabolic Encephalopathy,Brain Disease, Metabolic,Brain Disorder, Metabolic,Brain Metabolic Disorder,Brain Metabolic Disorders,CNS Metabolic Disorder,Encephalopathies, Acquired Metabolic,Encephalopathy, Acquired Metabolic,Encephalopathy, Metabolic,Metabolic Brain Disease,Metabolic Brain Disorder,Metabolic Brain Disorders,Metabolic Disorder, Brain,Metabolic Disorder, CNS,Metabolic Encephalopathies, Acquired,Metabolic Encephalopathy,Metabolic Encephalopathy, Acquired
D002331 Carnitine A constituent of STRIATED MUSCLE and LIVER. It is an amino acid derivative and an essential cofactor for fatty acid metabolism. Bicarnesine,L-Carnitine,Levocarnitine,Vitamin BT,L Carnitine
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D002658 Developmental Disabilities Disorders in which there is a delay in development based on that expected for a given age level or stage of development. These impairments or disabilities originate before age 18, may be expected to continue indefinitely, and constitute a substantial impairment. Biological and nonbiological factors are involved in these disorders. (From American Psychiatric Glossary, 6th ed) Child Development Deviations,Child Development Disorders,Child Development Disorders, Specific,Developmental Delay Disorders,Disabilities, Developmental,Development Disorders, Child,Child Development Deviation,Child Development Disorder,Development Deviation, Child,Development Deviations, Child,Development Disorder, Child,Developmental Delay Disorder,Developmental Disability,Deviation, Child Development,Disability, Developmental
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

Related Publications

Laura M Pollard, and Nolan R Williams, and Lesby Espinoza, and Tim C Wood, and Elaine B Spector, and Richard J Schroer, and Kenton R Holden
Late-onset multiple acyl-CoA dehydrogenase deficiency: a frequently missed diagnosis?
October 2006, Neurology,
Laura M Pollard, and Nolan R Williams, and Lesby Espinoza, and Tim C Wood, and Elaine B Spector, and Richard J Schroer, and Kenton R Holden
Late-onset multiple acyl-CoA dehydrogenase deficiency: an insidious presentation.
May 2023, BMJ case reports,
Laura M Pollard, and Nolan R Williams, and Lesby Espinoza, and Tim C Wood, and Elaine B Spector, and Richard J Schroer, and Kenton R Holden
[Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II)].
December 2003, Zhonghua er ke za zhi = Chinese journal of pediatrics,
Laura M Pollard, and Nolan R Williams, and Lesby Espinoza, and Tim C Wood, and Elaine B Spector, and Richard J Schroer, and Kenton R Holden
Late Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) Myopathy Misdiagnosed as Polymyositis.
August 2020, Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases,
Laura M Pollard, and Nolan R Williams, and Lesby Espinoza, and Tim C Wood, and Elaine B Spector, and Richard J Schroer, and Kenton R Holden
Late Onset Multiple Acyl-CoA Dehydrogenase Deficiency: A Rare Treatable Neurometabolic Disorder.
January 2022, Annals of Indian Academy of Neurology,
Laura M Pollard, and Nolan R Williams, and Lesby Espinoza, and Tim C Wood, and Elaine B Spector, and Richard J Schroer, and Kenton R Holden
Long-term outcomes of a patient with late-onset multiple acyl-CoA dehydrogenase deficiency caused by novel mutations in ETFDH: A case report.
November 2018, Medicine,
Laura M Pollard, and Nolan R Williams, and Lesby Espinoza, and Tim C Wood, and Elaine B Spector, and Richard J Schroer, and Kenton R Holden
A novel mutation of late-onset very-long-chain acyl-CoA dehydrogenase deficiency.
August 2002, Pediatric neurology,
Laura M Pollard, and Nolan R Williams, and Lesby Espinoza, and Tim C Wood, and Elaine B Spector, and Richard J Schroer, and Kenton R Holden
Late-onset multiple acyl-CoA dehydrogenase deficiency with cardiac syncope: A case report.
March 2020, World journal of clinical cases,
Laura M Pollard, and Nolan R Williams, and Lesby Espinoza, and Tim C Wood, and Elaine B Spector, and Richard J Schroer, and Kenton R Holden
An unusual presentation of type III late onset multiple-acyl-CoA dehydrogenase deficiency leading to a review of its classification system.
September 2022, The journal of the Royal College of Physicians of Edinburgh,
Laura M Pollard, and Nolan R Williams, and Lesby Espinoza, and Tim C Wood, and Elaine B Spector, and Richard J Schroer, and Kenton R Holden
New perspectives in late-onset multiple acyl-CoA dehydrogenase deficiency: Clinical and genetic findings.
December 2023, Journal of the neurological sciences,
Copied contents to your clipboard!