D-glyceric aciduria
A metabolic disorder characterized by D-glyceric acid excretion. It has been described in several patients. Clinical findings include progressive neurological impairment, hypotonia, seizures, failure to thrive and metabolic acidosis. Some patients had hyperglycinemia secondary to the organic acidemia. However, some of the reported patients were asymptomatic. D-glyceric aciduria is caused by D-glycerate kinase deficiency. The GLYCTK gene has been mapped to 3p21.
Also known as: D-glycerate kinase deficiency, D-glyceric acidemia, d-glyceric aciduria, D-glycericacidemia, non ketotic hyperglycinemia syndrome.
Category: General
Symptoms associated with D-glyceric aciduria
The following symptoms have been associated with D-glyceric aciduria 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...
Deeply set eye
An eye that is more deeply recessed into the plane of the face than is typical....
Failure to thrive
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm....
Focal clonic seizure
A focal clonic seizure is a type of focal motor seizure characterized by sustained rhythmic jerking, that is r...
Gastroesophageal reflux
A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower...
Seizure
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence ...
Sensorineural hearing impairment
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve....
Status epilepticus
Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsi...
Tests used to investigate D-glyceric aciduria
Healthcare providers may order these tests when evaluating D-glyceric aciduria. 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 D-glyceric aciduria, which is why a clinical evaluation is important.
Houge-Janssens syndrome 4
Houge-Janssens syndrome 4 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...
developmental and epileptic encephalopathy 119
A developmental and epileptic encephalopathy caused by the variants in the RNU2-2 gene, in which most reported...
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...
neurodevelopmental disorder with speech delay, movement abnormalities, and seizures
A neurodevelopmental disorder caused by a variation in the UNC13A gene, characterized by variable degrees of d...
Frequently Asked Questions
What is D-glyceric aciduria?
D-glyceric aciduria is a health condition described in medical literature. A metabolic disorder characterized by D-glyceric acid excretion. It has been described in several patients. Clinical findings include progressive neurological impairment, hypotonia, seizures, failure to thrive and metabolic acidosis. Some patients had hyperglycinemia secondary to the organic acidemia. However, some of the reported patients were asymptomatic. D-glyceric aciduria is caused by D-glycerate kinase deficiency. The GLYCTK gene has been mapped to 3p21.
What are the symptoms of D-glyceric aciduria?
D-glyceric aciduria is associated with 8 symptoms in the medical literature we index, including Bilateral tonic-clonic seizure, Deeply set eye, Failure to thrive, Focal clonic seizure, Gastroesophageal reflux, Seizure. Symptoms vary widely between individuals.
How is D-glyceric aciduria diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with D-glyceric aciduria 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 D-glyceric aciduria, please discuss your symptoms with a qualified healthcare provider.