Homocystinuria due to cystathionine beta-synthase deficiency
Homocystinuria due to cystathionine beta-synthase deficiency is a medical condition that may be associated with various symptoms and signs.
Category: General
Symptoms associated with Homocystinuria due to cystathionine beta-synthase deficiency
The following symptoms have been associated with Homocystinuria due to cystathionine beta-synthase deficiency in medical literature. Not everyone experiences the same symptoms.
Anxiety
Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is...
Depression
Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these m...
Gastrointestinal hemorrhage
Hemorrhage affecting the gastrointestinal tract....
Hemiplegia/hemiparesis
Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or...
Hypertension
The presence of chronic increased pressure in the systemic arterial system....
Intracranial hemorrhage
Hemorrhage occurring within the skull....
Seizure
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence ...
Subcutaneous hemorrhage
This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses)....
Urticaria
Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intens...
Tests used to investigate Homocystinuria due to cystathionine beta-synthase deficiency
Healthcare providers may order these tests when evaluating Homocystinuria due to cystathionine beta-synthase 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 cystathionine beta-synthase deficiency, which is why a clinical evaluation is important.
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multiple mitochondrial dysfunctions syndrome 9b
A mitochondrial dysfunction syndrome in which the cause of the disease is a mutation in the FDXR gene. It is c...
Frequently Asked Questions
What is Homocystinuria due to cystathionine beta-synthase deficiency?
Homocystinuria due to cystathionine beta-synthase deficiency is a health condition described in medical literature. Homocystinuria due to cystathionine beta-synthase deficiency is a medical condition that may be associated with various symptoms and signs.
What are the symptoms of Homocystinuria due to cystathionine beta-synthase deficiency?
Homocystinuria due to cystathionine beta-synthase deficiency is associated with 9 symptoms in the medical literature we index, including Anxiety, Depression, Gastrointestinal hemorrhage, Hemiplegia/hemiparesis, Hypertension, Intracranial hemorrhage. Symptoms vary widely between individuals.
How is Homocystinuria due to cystathionine beta-synthase 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 cystathionine beta-synthase 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 cystathionine beta-synthase deficiency, please discuss your symptoms with a qualified healthcare provider.