Disease Information for Carnitine deficiency syndrome

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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
Massive Hepatomegaly
Delay Sitting Unsupported Infant
Hypotonia
Mouth Hangs Open Infant
Muscle weakness
Muscles Soft/Doughy Infant
Proximal muscle weakness
Rolling Over Delay Infant
Babkin infant sign/Abnormal
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
Shallow Breathing Infant
Weakness
Ptosis (blepharoptosis)
Disease Progression
Course/Chronic disorder
Course/Chronic only
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)
Fasting hypoglycemia (Lab)
Hypoketotic hypoglycemia (Lab)
Abnormal Lab Findings - Decreased
Carnitine level (LAB)
Glucose, blood (Lab)
Associated Diseases & Rule outs
Rule Outs
Muscular dystrophy
Reye's syndrome
Associated Disease & Complications
Cardiomyopathy
Carnitine deficiency/systemic
CNS disease/involvement
Encephalopathy, hypoglycemia
Encephalopathy/CNS effect
Hypoglycemia
Hypoglycemia, infantile
Neonatal Hypotonia/Floppy Baby Syndrome
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Muscle disorder (ex)
CLASS/Muscle/tendon/extremities (category)
CLASS/Striated muscle disorder (ex)
Pathophysiology
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Metabolic myopathy (ex)
Process
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Hereditofamilial (category)
PROCESS/Metabolic/storage disorder (category)
PROCESS/Mitochondrial disorders (ex)
Treatment
Drug Therapy - Indication
RX/Carnitine (Carnitor L-Carnitine)
Definition
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External Links Related to Carnitine deficiency syndrome
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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