Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Homocystinuria due to methylene tetrahydrofolate reductase deficiency is a medical condition that may be associated with various symptoms and signs.
Category: General
Symptoms associated with Homocystinuria due to methylene tetrahydrofolate reductase deficiency
The following symptoms have been associated with Homocystinuria due to methylene tetrahydrofolate reductase deficiency in medical literature. Not everyone experiences the same symptoms.
Bilateral tonic-clonic seizure
A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to...
Failure to thrive
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm....
Focal-onset seizure
A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be ...
Generalized myoclonic seizure
A generalized myoclonic seizure is a type of generalized motor seizure characterized by bilateral, sudden, bri...
Generalized non-motor (absence) seizure
A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographical...
Headache
Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve....
Hemiparesis
Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete ...
Lower limb muscle weakness
Weakness of the muscles of the legs....
Seizure
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence ...
Tests used to investigate Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Healthcare providers may order these tests when evaluating Homocystinuria due to methylene tetrahydrofolate reductase deficiency. 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 Homocystinuria due to methylene tetrahydrofolate reductase deficiency, which is why a clinical evaluation is important.
Early infantile developmental and epileptic encephalopathy
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Lafora disease
Lafora disease is a medical condition that may be associated with various symptoms and signs....
MELAS
MELAS is a medical condition that may be associated with various symptoms and signs....
RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity
A neurodevelopmental disorder in which the cause of the disease is a variation in RNU5B-1 gene and is characte...
cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1
cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1 is a medical c...
intellectual disability, autosomal dominant 42
Any autosomal dominant intellectual disability in which the cause of the disease is a heterozygous mutation in...
Frequently Asked Questions
What is Homocystinuria due to methylene tetrahydrofolate reductase deficiency?
Homocystinuria due to methylene tetrahydrofolate reductase deficiency is a health condition described in medical literature. Homocystinuria due to methylene tetrahydrofolate reductase deficiency is a medical condition that may be associated with various symptoms and signs.
What are the symptoms of Homocystinuria due to methylene tetrahydrofolate reductase deficiency?
Homocystinuria due to methylene tetrahydrofolate reductase deficiency is associated with 9 symptoms in the medical literature we index, including Bilateral tonic-clonic seizure, Failure to thrive, Focal-onset seizure, Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Headache. Symptoms vary widely between individuals.
How is Homocystinuria due to methylene tetrahydrofolate reductase deficiency diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with Homocystinuria due to methylene tetrahydrofolate reductase deficiency 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 Homocystinuria due to methylene tetrahydrofolate reductase deficiency, please discuss your symptoms with a qualified healthcare provider.