Disease Information for Acyl-CoA Dehydrogenase/short chain def

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Clinical Manifestations
Signs & Symptoms
Anorexia in Children
Anorexia in Infant
Failure to Thrive
Failure to Thrive Child
Failure to thrive/infant sign
Feeding/Apetite Problems Child
Nausea
Poor feeding/infant
Vomiting
Vomiting in infancy
Flabby muscles
Hypotonia
Muscle weakness
Weak/Weak as a kitten (symptom)
Delayed speech/language development
Development Motor Skills (Milestones) Delayed
Developmental milestones delayed
Lethargy/torpor
Newborn Poor Sucking response/reflex
Slow Motor Development
Weakness/Diffuse motor loss
Asymptomatic patient
Enervated/extreme acute fatigue
Infant peevish/irritable/fretful
Weakness
Weakness non-neuromuscular/systemic
Typical Clinical Presentation
Presentation/Death in childhood
Clinical Presentation & Variations
Presentation/Death in infancy
Presentation/Non diabetic Ketoacidosis Kids infants
Presentation/Infant Progressive Hypotonia Weakness Acidosis
Disease Progression
Course/Chronic disorder
Course/Chronic only
Course/Progressive
Course/Progressive/slowly chronic illness
Demographics & Risk Factors
Population Group
Child
Infant
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Population/Infant
Laboratory Tests
Abnormal Lab Findings (Non Measured)
DNATest specific/genetics laboratory/abnormality (Lab)
Enzyme Assay plasma/tissue/fibroblast abnormal
Neonatal metabolic screening (mass spec) abnormal
Newborn screening tests abnormal (extended)
Tandem Mass Spectrometry (MS/MS) abnormal
Abnormal Lab Findings - Increased
Ammonia blood (Lab)
Anion gap (Lab)
Lactic acid/Lactate (Lab)
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
Death Newborn/Perinatal
Fatty acid oxidation/Metabolic syndromes
Hyperammonemia
Hypoglycemia, infantile
Lactic acidosis
Myopathy
Myopathy/secondary/nonspecific
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Muscle/tendon/extremities (category)
CLASS/Striated muscle disorder (ex)
Pathophysiology
Pathophysiology/Adult variant disease milder
Pathophysiology/Beta oxidation fat defct variant
Pathophysiology/Fails to metabolize fat/mitochondrial level
Pathophysiology/Gene locus 12q22-qter
Pathophysiology/Gene locus chromosome 12q
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Beta-oxidation cycle defect
Process
PROCESS/Disease with two subtypes
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Fatty acid Oxidation Disorders (FOD)
PROCESS/Hereditary mitochondrial disorder (ex)
PROCESS/Hereditofamilial (category)
PROCESS/Hereditofamilial variant/pedigrees reported (ex)
PROCESS/INCIDENCE/Extremely rare disease
PROCESS/Metabolic/storage disorder (category)
PROCESS/Organic acidemia metabolic disorder (ex)
PROCESS/Variant expressions/Subsets (ex)
PROCESS/Mitochondrial disorders (ex)
Synonyms
Synonym
Acyl CoA Dehydrogenase, Acyl CoA Dehydrogenase Medium Chain, Acyl coenzyme A Dehydrogenase, CoA Dehydrogenase Fatty acyl, Dehydrogenase Acyl CoA, Dehydrogenase Acyl coenzyme A, Dehydrogenase Fatty acyl CoA, Dehydrogenase Medium Chain Acyl CoA, Dehydrogenase Octanoyl CoA, Dehydrogenase Palmitoyl CoA, Fatty acyl CoA Dehydrogenase, MCACA Dehydrogenase, MCAD Medium chain acyl coenzyme A dehydrogenase, MCAD Med chn acyl CoA dehydrog, Med chn acyl CoA dehydrogenase, Medium chain acyl CoA dehydrog, Medium Chain Acyl CoA Dehydrogenase, Medium Chain Acyl Coenzyme A Dehydrogenase, Medium chain acyl coenzyme A dehydrogenase (substance), Octanoyl CoA Dehydrogenase, Palmitoyl CoA Dehydrogenase, short chain deficiency, Synonym/Fat beta oxidation mitochodrial defct variant, Synonym/Lipid storage myopathy with SCAD def, Synonym/SCAD deficiency, Synonym/SCAD Deficiency, Adult-onset/localized variant, Synonym/SCAD Deficiency, Congenital/generalized variant, Synonym/SCADH deficiency, Synonym/Short Chain Acyl CoA Dehdrogenase def
Definition

Short Chain Acyl CoA Dehydrogenase Deficiency (SCAD); synomnyms:Lipid-Storage Myopathy Associated with SCAD Deficiency;SCAD Deficiency ;SCAD Deficiency, Adult-Onset (Localized) ;SCAD Deficiency, Congenital (Generalized);SCADH Deficiency.

Short-chain acyl-CoA dehydrogenase deficiency is an extremely rare inherited disorder of fat metabolism belonging to a group of diseases known as fatty acid oxidation disorders (FOD); It occurs because of a deficiency of an enzyme;The enzyme, known as short-chain acyl-CoA dehydrogenase enzyme, is involved in the breakdown of complex fatty acids into more simple substances; This takes place in the cell’s mitochondria, small, well-defined bodies found in all cells in which energy is generated from the breakdown of complex substances into simpler ones (mitochondrial oxidation); When this enzyme is deficient, excessive amounts of fatty acids accumulate in the liver and muscle tissues, and ammonia and other products accumulate in the blood and body tissues;Although SCAD was initially thought to produce severe problems including progressive muscle weakness, hypotonia, acidemia, developmental delay, and even early death, it is now believed that this disorder is both more common and less severe in many cases than originally thought at the time of its discovery 20 years ago;Since the advent of expanded newborn screening programs using tandem mass spectrometry technology, many more SCAD infants are being detected, many of whom are well and asymptomatic;When symptoms are present, they tend to appear soon (days to weeks) after birth and include lack of weight gain, general failure to thrive, vomiting, and poor feeding;NORD 2005]

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Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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