3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form is a medical condition that may be associated with various symptoms and signs.
Category: General
Symptoms associated with 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
The following symptoms have been associated with 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form in medical literature. Not everyone experiences the same symptoms.
Atonic seizure
Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without ...
Bilateral tonic-clonic seizure
A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to...
Epileptic spasm
A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is ...
Failure to thrive
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm....
Focal emotional seizure with laughing
Focal emotional seizure with laughing (gelastic) is characterized by bursts of laughter or giggling, usually w...
Gastroesophageal reflux
A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower...
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...
Vomiting
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic...
Tests used to investigate 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
Healthcare providers may order these tests when evaluating 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form. 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 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form, which is why a clinical evaluation is important.
Early infantile developmental and epileptic encephalopathy
Early infantile developmental and epileptic encephalopathy is a medical condition that may be associated with ...
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...
X-linked intellectual disability, Cantagrel type
An X-linked syndromic intellectual disability characterized by marked neonatal hypotonia, progressive quadripa...
developmental and epileptic encephalopathy 119
A developmental and epileptic encephalopathy caused by the variants in the RNU2-2 gene, in which most reported...
neurodevelopmental disorder with hypotonia and speech delay, with or without seizures
neurodevelopmental disorder with hypotonia and speech delay, with or without seizures is a medical condition t...
neurodevelopmental disorder with poor growth, seizures, and brain abnormalities
neurodevelopmental disorder with poor growth, seizures, and brain abnormalities is a medical condition that ma...
Frequently Asked Questions
What is 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form?
3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form is a health condition described in medical literature. 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form is a medical condition that may be associated with various symptoms and signs.
What are the symptoms of 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form?
3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form is associated with 9 symptoms in the medical literature we index, including Atonic seizure, Bilateral tonic-clonic seizure, Epileptic spasm, Failure to thrive, Focal emotional seizure with laughing, Gastroesophageal reflux. Symptoms vary widely between individuals.
How is 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form 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 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form, please discuss your symptoms with a qualified healthcare provider.