triosephosphate isomerase deficiency
Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration.
Also known as: hemolytic anaemia due to triosephosphate isomerase deficiency, hemolytic anemia due to triosephosphate isomerase deficiency, triose phosphate-isomerase deficiency, triosephosphate isomerase deficiency, TPI deficiency, TPID.
Category: General
Symptoms associated with triosephosphate isomerase deficiency
The following symptoms have been associated with triosephosphate isomerase deficiency in medical literature. Not everyone experiences the same symptoms.
Failure to thrive
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm....
Jaundice
Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentra...
Muscle weakness
Reduced strength of muscles....
Progressive muscle weakness
Information about Progressive muscle weakness....
Prolonged neonatal jaundice
Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of incre...
Respiratory insufficiency due to muscle weakness
Information about Respiratory insufficiency due to muscle weakness....
Tremor
An unintentional, oscillating to-and-fro muscle movement about a joint axis....
Tests used to investigate triosephosphate isomerase deficiency
Healthcare providers may order these tests when evaluating triosephosphate isomerase 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 triosephosphate isomerase deficiency, which is why a clinical evaluation is important.
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Frequently Asked Questions
What is triosephosphate isomerase deficiency?
triosephosphate isomerase deficiency is a health condition described in medical literature. Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration.
What are the symptoms of triosephosphate isomerase deficiency?
triosephosphate isomerase deficiency is associated with 7 symptoms in the medical literature we index, including Failure to thrive, Jaundice, Muscle weakness, Progressive muscle weakness, Prolonged neonatal jaundice, Respiratory insufficiency due to muscle weakness. Symptoms vary widely between individuals.
How is triosephosphate isomerase deficiency diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with triosephosphate isomerase 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 triosephosphate isomerase deficiency, please discuss your symptoms with a qualified healthcare provider.