Disease Information for LCHAD/Long chain OH-CoA dehydrogenase def

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
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
Population/Pediatrics population
Family History
Family history/Enzyme defect
Family history/Metabolic disease
Sex & Age Groups
Population/Child-Infant Only
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, metabolic
Fatty acid oxidation/Metabolic syndromes
Fatty liver of pregnancy
Hypoglycemia, infantile
Neonatal Hypotonia/Floppy Baby Syndrome
Sudden death/Child
Disease Synergy - Causes
Disease Mechanism & Classification
CLASS/Pediatric disorders (ex)
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/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)
Acyl CoA Dehydrogenase Long Chain, Acyl CoA Dehydrogenase Very Long Chain, deficiency, Dehydrogenase Long Chain Acyl CoA, Dehydrogenase Long Chain Acyl Coenzyme A, Dehydrogenase Very Long Chain Acyl CoA, Long ch acyl CoA dehydrogenase, Long chain acyl CoA dehydrog, Long Chain Acyl CoA Dehydrogenase, Long chain acyl CoA dehydrogenase (substance), Long Chain Acyl Coenzyme A Dehydrogenase, Long chain acyl coenzyme A dehydrogenase (substance), Very Long Chain Acyl CoA Dehydrogenase, VLCAD, Synonym/Fat beta oxidation mitochodrial defct variant
Other Treatments
TX/Diet restriction treatment.
Other Treatments
TX/Diet Limit long chain fatty acids
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

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.


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