branched-chain keto acid dehydrogenase kinase deficiency
A rare disorder of branched-chain amino acid metabolism characterized by childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids.
Also known as: BCKDK deficiency, BCKDKD, autism - epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency, branched-chain keto acid dehydrogenase kinase deficiency.
Category: General
Symptoms associated with branched-chain keto acid dehydrogenase kinase deficiency
The following symptoms have been associated with branched-chain keto acid dehydrogenase kinase 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...
Dry skin
Skin characterized by the lack of natural or normal moisture....
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-onset seizure
A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilat...
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....
Simple febrile seizure
A short generalized seizure, of a duration of <15 min, not recurring within 24 h, occurring during a febrile e...
Typical absence seizure
A typical absence seizure is a type of generalized non-motor (absence) seizure characterized by its sudden ons...
Tests used to investigate branched-chain keto acid dehydrogenase kinase deficiency
Healthcare providers may order these tests when evaluating branched-chain keto acid dehydrogenase kinase 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 branched-chain keto acid dehydrogenase kinase deficiency, which is why a clinical evaluation is important.
Bilateral generalized polymicrogyria
Bilateral generalized polymicrogyria is a medical condition that may be associated with various symptoms and s...
Bilateral polymicrogyria
Bilateral polymicrogyria is a medical condition that may be associated with various symptoms and signs....
Familial infantile myoclonic epilepsy
Familial infantile myoclonic epilepsy is a medical condition that may be associated with various symptoms and ...
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...
Stolerman neurodevelopmental syndrome
Stolerman neurodevelopmental syndrome is a medical condition that may be associated with various symptoms and ...
developmental and epileptic encephalopathy 119
A developmental and epileptic encephalopathy caused by the variants in the RNU2-2 gene, in which most reported...
Frequently Asked Questions
What is branched-chain keto acid dehydrogenase kinase deficiency?
branched-chain keto acid dehydrogenase kinase deficiency is a health condition described in medical literature. A rare disorder of branched-chain amino acid metabolism characterized by childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids.
What are the symptoms of branched-chain keto acid dehydrogenase kinase deficiency?
branched-chain keto acid dehydrogenase kinase deficiency is associated with 9 symptoms in the medical literature we index, including Bilateral tonic-clonic seizure, Dry skin, Focal-onset seizure, Generalized myoclonic seizure, Generalized-onset seizure, Seizure. Symptoms vary widely between individuals.
How is branched-chain keto acid dehydrogenase kinase deficiency diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with branched-chain keto acid dehydrogenase kinase 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 branched-chain keto acid dehydrogenase kinase deficiency, please discuss your symptoms with a qualified healthcare provider.