Disease Information for VLCHAD/Very Long chain OH-CoA dehydrogenase def

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Clinical Manifestations
Signs & Symptoms
Hyperextensable Joints Infant
Anorexia in Infant
Failure to Thrive
Failure to Thrive Child
Failure to thrive/infant sign
Fasting intolerant
Feeding/Apetite Problems Child
Tongue Protrudes Infant
Delay Sitting Unsupported Infant
Hypotonia
Mouth Hangs Open Infant
Muscles Soft/Doughy Infant
Rolling Over Delay Infant
Babkin infant sign/Abnormal
Delayed speech/language development
Delayed walking milestone/child
Development Motor Skills (Milestones) Delayed
Developmental milestones delayed
Galant Infant reflex/Abnormal
Head Neck Floppy Infant Hypotonia Sign
Infant Head Support Delay
Moro reflex Poor/Absent Infant
Palmar Grasp infant Reflex Abnormal
Primitive infant reflexes/Abnormal
Rooting infant sign/Abnormal
Slow Motor Development
Swimming infant reflex/Abnormal
Tonic Neck Infant reflex/Abnormal
Shallow Breathing Infant
Episodic symptoms/events
Near death experience/infant/SIDS survivor
Spells/Episodes of weakness
Sudden death of an infant
Clinical Presentation & Variations
Presentation/Non diabetic Ketoacidosis Kids infants
Presentation/Maternal Difficulty Caused by Fetus Metabolism
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Infant
Population/Pediatrics population
Family History
Family history/Enzyme defect
Family history/Metabolic disease
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Population/Infant
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Cultured fibroblast enzyme assay abnormal (Lab)
DNATest specific/genetics laboratory/abnormality (Lab)
Enzyme Assay plasma/tissue/fibroblast abnormal
Fasting hypoglycemia (Lab)
Hypoketotic hypoglycemia (Lab)
Neonatal metabolic screening (mass spec) abnormal
Newborn screening tests abnormal (extended)
Abnormal Lab Findings - Decreased
Glucose, blood (Lab)
Abnormal Lab Findings - Increased
pH, arterial blood (Lab)
Diagnostic Test Results
Other Tests & Procedures
Amniocentesis/Chorion villi enzyme assay/abnormal
Associated Diseases & Rule outs
Associated Disease & Complications
Acidosis
Acidosis, metabolic
Cardiomyopathy
Fatty acid oxidation/Metabolic syndromes
Fatty liver of pregnancy
Hypoglycemia, infantile
Neonatal Hypotonia/Floppy Baby Syndrome
Sudden death/Child
Disease Synergy - Causes
Synergy/Fasting/starvation
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
Pathophysiology
Pathophysiology/Beta oxidation fat defct variant
Pathophysiology/Fails to metabolize fat/mitochondrial level
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Intractable neonatal hypoglycemia
Pathophysiology/Long chain 3-Hydroxyacl-CoA dehydrogenase defic
Pathophysiology/Beta-oxidation cycle defect
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Fatty acid Oxidation Disorders (FOD)
PROCESS/Hereditary mitochondrial disorder (ex)
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Esoteric disease (example)
PROCESS/INCIDENCE/Extremely rare disease
PROCESS/Metabolic/storage disorder (category)
PROCESS/Mitochondrial disorders (ex)
Synonyms
Synonym
VLCHAD Very Long chain OH CoA dehydrogenase def, Synonym/Fat beta oxidation mitochodrial defct variant
Treatment
Other Treatments
TX/Diet restriction treatment.
Other Treatments
TX/Diet restriction treatment.
TX/Frequent feedings/Avoid fasting
TX/High carbohydrate diet
TX/Medium chain TGA/fatty acid diet
TX/Restricted long chain fatty acid diet
Definition

Very long chain hydroxy-CoA dehydrogenase deficiency is essentially like long chain disease but more rare;

Long chain 3-Hydroxacyl-CoA dehydrogenase Deficiency metabolic enzyme defect; Hereditary extremely rare mitochondrial defect in all body cells; Severe fat dietary

restriction is indicated; Presentation often as failure to thrive infants; Family history positive;---------------------------------.Very Long Chain Acyl CoA Dehydrogenase Deficiency (LCAD)

ACADL

LCAD Deficiency

Long Chain Acyl-CoA Dehydrogenase Deficiency

Nonketotic Hypoglycemia Caused by Deficiency of Acyl-CoA Dehydrogenase

VLCAD

Disorder Subdivisions

General Discussion

Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD) is a rare genetic disorder of fatty acid metabolism that is transmitted as an autosomal recessive trait. It occurs when an enzyme needed to break down certain very long-chain fatty acids is missing or not working properly. VLCAD is one of the metabolic diseases known as fatty acid oxidation (FOD) diseases. In the past, the name long-chain acyl-CoA dehydrogenase deficiency (LCAD) was applied to one such disease, but today it is believed that all cases once thought to be LCAD are actually VLCAD.

The breakdown of fatty acids takes place in the mitochondria found in each cell. The mitochondria are small, well-defined bodies that are found in the cytoplasm of cells and in which the body generates energy from the breakdown of complex substances into simpler ones (mitochondrial oxidation); There appear to be two forms of VLCAD: an early-onset, severe form which, if unrecognized and undiagnosed, may lead to extreme weakness of the heart muscles (cardiomyopathy) and may be life-threatening (VLCAD-C), and a later-onset, milder form, sometimes referred to as VLCAD-H, that is characterized by repeated bouts of low blood sugar (hypoglycemia); Since the advent of expanded newborn screening programs using tandem mass spectrometry technology, more VLCAD infants are being detected earlier in the course of the disorder than in the past;[NORD 2005]

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External Links Related to VLCHAD/Very Long chain OH-CoA dehydrogenase def
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PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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