methylmalonic aciduria and homocystinuria type cblC
A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. cblC type methylmalonic acidemia with homocystinuria is caused by mutations in the MMACHC gene (1p36.3) and is transmitted in an autosomal recessive manner.
Also known as: cblC defect, cobalamin C defect, cobalamin c disease, combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC, methylmalonic aciduria and homocystinuria type cblC, methylmalonic aciduria with homocystinuria, type cblC, MAHCC, cblC, methylmalonic acidemia and homocystinuria cblC, methylmalonic acidemia with homocystinuria type cblC.
Category: General
Symptoms associated with methylmalonic aciduria and homocystinuria type cblC
The following symptoms have been associated with methylmalonic aciduria and homocystinuria type cblC in medical literature. Not everyone experiences the same symptoms.
Confusion
Lack of clarity and coherence of thought, perception, understanding, or action....
Failure to thrive
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm....
Hematuria
The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic...
Hypotension
Low Blood Pressure, vascular hypotension....
Seizure
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence ...
Tremor
An unintentional, oscillating to-and-fro muscle movement about a joint axis....
Vomiting
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic...
Tests used to investigate methylmalonic aciduria and homocystinuria type cblC
Healthcare providers may order these tests when evaluating methylmalonic aciduria and homocystinuria type cblC. 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....
Conditions with overlapping symptoms
These conditions share symptoms with methylmalonic aciduria and homocystinuria type cblC, which is why a clinical evaluation is important.
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Frequently Asked Questions
What is methylmalonic aciduria and homocystinuria type cblC?
methylmalonic aciduria and homocystinuria type cblC is a health condition described in medical literature. A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. cblC type methylmalonic acidemia with homocystinuria is caused by mutations in the MMACHC gene (1p36.3) and is transmitted in an autosomal recessive manner.
What are the symptoms of methylmalonic aciduria and homocystinuria type cblC?
methylmalonic aciduria and homocystinuria type cblC is associated with 7 symptoms in the medical literature we index, including Confusion, Failure to thrive, Hematuria, Hypotension, Seizure, Tremor. Symptoms vary widely between individuals.
How is methylmalonic aciduria and homocystinuria type cblC diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with methylmalonic aciduria and homocystinuria type cblC 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 methylmalonic aciduria and homocystinuria type cblC, please discuss your symptoms with a qualified healthcare provider.