Phenotypes associated with the disease leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate (OMIM:618384):
- Progressive neurologic deterioration (HP:0002344). Evidence: PCS. Frequency: 2/2. (PMID:30635937)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 1/2. (PMID:30635937)
- Dysmetria (HP:0001310): A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements. Evidence: PCS. Frequency: 1/2. (PMID:30635937)
- Cerebellar atrophy (HP:0001272): Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event. Evidence: PCS. Frequency: 1/2. (PMID:30635937)
- Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373): A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years. Evidence: PCS. Frequency: 1/2. (PMID:30635937)
- Dysarthria (HP:0001260): Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed. Evidence: PCS. Frequency: 2/2. (PMID:30635937)
- Ataxia (HP:0001251): Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). Evidence: PCS. Frequency: 2/2. (PMID:30635937)
- Generalized hypotonia (HP:0001290): Generalized muscular hypotonia (abnormally low muscle tone). Evidence: PCS. Frequency: 1/2. (PMID:30635937)
- Increased CSF lactate (HP:0002490): Increased concentration of lactate in the cerebrospinal fluid. Evidence: PCS. Frequency: 1/2. (PMID:30635937)
- CSF pleocytosis (HP:0012229): An increased white blood cell count in the cerebrospinal fluid. Evidence: PCS. Frequency: 1/2. (PMID:30635937)
- Elevated CSF alpha-ketoglutarate concentration (HP:6000468): The concentration of alpha-ketoglutarate in the cerebrospinal fluid (CSF) is above the upper limit of normal. Evidence: PCS. Frequency: 1/2. (PMID:30635937)
- Elevated urine N-acetylaspartic acid level (HP:0034649): The amount of N-acetylaspartate in the urine, when corrected for urine concentration, is above upper limit of normal. This feature can be measured using gas chromatography-mass spectrometry. Evidence: PCS. Frequency: 1/2. (PMID:30635937)
- Increased urine alpha-ketoglutarate concentration (HP:0012402): A greater than normal concentration of 2-oxoglutaric acid in the urine. Evidence: PCS. Frequency: 1/2. (PMID:30635937)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/2. (PMID:30635937)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:30635937)
- Drowsiness (HP:0002329): Abnormal feeling of sleepiness or difficulty staying awake. Evidence: PCS. Frequency: 2/2. (PMID:30635937)
- Abnormal cerebral white matter morphology (HP:0002500): An abnormality of the cerebral white matter. Evidence: PCS. Frequency: 1/2. (PMID:30635937)
- Increased urine succinate level (HP:0033092): The concentration of succinate in the urine, normalized for urine concentration, is above the upper limit of normal. Evidence: PCS. Frequency: 1/2. (PMID:30635937)