Disease Information for Glutaric aciduria/type II

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Clinical Manifestations
Signs & Symptoms
Hyperextensable Joints Infant
Tongue Protrudes Infant
Delay Sitting Unsupported Infant
Mouth Hangs Open Infant
Muscles Soft/Doughy Infant
Rolling Over Delay Infant
Babkin infant sign/Abnormal
Chorea signs
Choreoathetosis
Delayed walking milestone/child
Development Motor Skills (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
Swimming infant reflex/Abnormal
Tonic Neck Infant reflex/Abnormal
Weakness/Diffuse motor loss
Shallow Breathing Infant
Macrocephaly/Large head
Megalocephaly
Urine odor sweaty feet
Body odor/Sweaty feet smell
Episodic symptoms/events
Weakness
Typical Clinical Presentation
Stroke syndrome kids/metabolic causes
Clinical Presentation & Variations
Presentation/Non diabetic Ketoacidosis Kids infants
Disease Progression
Course/Chronic disorder
Course/Chronic only
Course/Episodic clusters of attacks
Course/Potentially lethal/untreated
Lethal Potential
Onset/Adolescence/puberty
Onset/Childhood
Seizures unresponsive to treatment
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Family History
Family history/Metabolic disease
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Neonatal metabolic screening (mass spec) abnormal
Associated Diseases & Rule outs
Rule Outs
Reye's syndrome
Associated Disease & Complications
Acidosis, metabolic
Death Outcome
Glutaric aciduria II
Hypoglycemia
Hypoglycemia, infantile
Neonatal Hypotonia/Floppy Baby Syndrome
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
Pathophysiology
Pathophysiology/Defect ETF:ubiquinone oxidoreductase
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Variable course subsets/severe/mild
Pathophysiology/Peroxisomal disorder/liver cells (ex)
Pathophysiology/Hereditary disease renal effect
Process
PROCESS/Aminoacid metabolic disorder (ex)
PROCESS/Fatty acid Oxidation Disorders (FOD)
PROCESS/Hereditofamilial (category)
PROCESS/Metabolic/storage disorder (category)
Synonyms
Synonym
Glutaric aciduria type II, Synonym/Multiple Acyl-CoA dehydrogenase deficiency
Treatment
Other Treatments
TX/Specific diet/avoidance
Definition

Rare metabolic defect in electron transferflavoproteins; ETF:ubiquinone oxireductase; infantil form diagnosed in utero; urine organic acid chromatography abnormal ; hypoglycemia; acidosis;sweaty feet smell neonatal type; tissue assays definitive; diet restriction fat;extra carbohydrate load hs; added bicarbonate;riboflavin and carnitine supplement

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External Links Related to Glutaric aciduria/type II
Google
Wikipedia
Merck
Images
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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