systemic primary carnitine deficiency disease
Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma.
Also known as: CDSP, CUD, Carnitine deficiency, Carnitine transporter defect, Carnitine uptake deficiency, SPCD, carnitine transporter deficiency, carnitine uptake defect, cud, deficiency of plasma-membrane carnitine transporter.
Category: General
Drugs labeled for systemic primary carnitine deficiency disease
1 medication ingredients list an association with systemic primary carnitine deficiency disease in current FDA labeling.
See all medications for systemic primary carnitine deficiency disease →
Symptoms associated with systemic primary carnitine deficiency disease
The following symptoms have been associated with systemic primary carnitine deficiency disease in medical literature. Not everyone experiences the same symptoms.
Confusion
Lack of clarity and coherence of thought, perception, understanding, or action....
Diarrhea
Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day....
Excessive daytime somnolence
A state of abnormally strong desire for sleep during the daytime....
Failure to thrive
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm....
Muscle weakness
Reduced strength of muscles....
Proximal muscle weakness
A lack of strength of the proximal muscles....
Vomiting
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic...
Tests used to investigate systemic primary carnitine deficiency disease
Healthcare providers may order these tests when evaluating systemic primary carnitine deficiency disease. Test selection is a clinical decision made by a qualified professional.
CBC with Differential
Measures red blood cells, white blood cells, and platelets to help evaluate overall health and detect disorder...
Comprehensive Metabolic Panel (CMP)
Measures 14 substances in the blood to assess kidney and liver function, electrolyte balance, and blood sugar ...
Urinalysis
Examines urine content to help detect urinary tract infections, kidney disease, and diabetes....
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These conditions share symptoms with systemic primary carnitine deficiency disease, which is why a clinical evaluation is important.
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Frequently Asked Questions
What is systemic primary carnitine deficiency disease?
systemic primary carnitine deficiency disease is a health condition described in medical literature. Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma.
What are the symptoms of systemic primary carnitine deficiency disease?
systemic primary carnitine deficiency disease is associated with 7 symptoms in the medical literature we index, including Confusion, Diarrhea, Excessive daytime somnolence, Failure to thrive, Muscle weakness, Proximal muscle weakness. Symptoms vary widely between individuals.
How is systemic primary carnitine deficiency disease diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with systemic primary carnitine deficiency disease include CBC with Differential, Comprehensive Metabolic Panel (CMP), Urinalysis. This information is educational, not a diagnosis.
Is SymptomDatabase.com diagnosing me?
No. SymptomDatabase.com does not provide diagnosis. If you are concerned you may have systemic primary carnitine deficiency disease, please discuss your symptoms with a qualified healthcare provider.