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Ontology Browser

Term:
Acute Reversible Leukoencephalopathy with Increased Urinary Alpha-ketoglutarate (DOID:9000912)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
3-Hydroxyacyl-CoA Dehydrogenase Deficiency  
3-methylglutaconic aciduria +   
5-Nucleotidase Syndrome 
6-Phosphogluconolactonase Deficiency 
aceruloplasminemia  
Acetylcarnitine Deficiency 
Acholinesterasemia  
Acid Phosphatase Deficiency  
Acute Reversible Leukoencephalopathy with Increased Urinary Alpha-ketoglutarate  
An autosomal recessive disorder characterized by acute reversible neurologic deterioration in the context of a febrile illness. The disorder is associated with transient leukoencephalopathy on brain imaging concurrent with the acute episode, as well as persistently increased excretion of dicarboxylic acids, particularly alpha-ketoglutarate.
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia  
Adult-Onset Muscular Dystrophy with Leukoencephalopathy 
Alpha-Fetoprotein Deficiency  
Alpha-Fetoprotein, Hereditary Persistence of  
amino acid metabolic disorder +   
Amino Acid Transport Disorders, Inborn +   
Angiotensin I-Converting Enzyme, Benign Serum Increase  
Arene Oxide Detoxification Defect 
aromatase excess syndrome  
Aryl Hydrocarbon Hydroxylase Inducibility 
bilirubin metabolic disorder +   
brain small vessel disease 1  
Butyrylcholinesterase Deficiency  
Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type  
carbohydrate metabolic disorder +   
CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO  
Carnitine Acetyltransferase Deficiency  
cerebral amyloid angiopathy +   
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy  
Cerebroretinal Microangiopathy with Calcifications and Cysts +   
CHITOTRIOSIDASE DEFICIENCY  
Chromate Resistance 
Combined Congenital Deficiency of Intrinsic Factor and R Binder 
Combined Defect of Growth Factors 
Combined Exocrine Pancreatic Insufficiency 
Combined Immunodeficiency and Megaloblastic Anemia with or without Hyperhomocysteinemia  
combined oxidative phosphorylation deficiency 12  
congenital leptin deficiency  
congenital secretory chloride diarrhea 1  
congenital secretory sodium diarrhea 3  
Copper Deficiency, Familial Benign 
Coumarin Sensitivity  
cytochrome-c oxidase deficiency disease +   
Deafness Hyperuricemia Neurologic Ataxia 
DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY  
Decreased Urinary Activity of Kallikrein  
Defect in Hyaluronan Metabolism 
Defect in Hydroxylation of Diphenylhydantoin 
Deficient N-Hydroxylation of Amobarbital 
Demyelinating Autoimmune Diseases, CNS +   
Deoxyribose-5-Phosphate Aldolase Deficiency 
dopamine beta-hydroxylase deficiency  
DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE  
Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy +   
Efavirenz, Poor Metabolism of  
enterokinase deficiency  
Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy  
Ethanolaminosis 
Familial Amyloidosis +   
familial erythrocytosis 8  
familial hypocalciuric hypercalcemia +   
Familial Hypokalemia +   
FUCOSYLTRANSFERASE 6 DEFICIENCY  
Glucocorticoid Receptor Deficiency  
Glucose-Stimulated Secretory Diarrhea, with Common Variable Immunodeficiency 
Glycoprotein Storage Disease  
Glyoxalase II Deficiency  
Gordon Holmes syndrome  
Greenberg dysplasia  
Hereditary Central Nervous System Demyelinating Diseases +   
Hereditary Diffuse Leukoencephalopathy with Spheroids 2  
Hereditary Hyperbilirubinemia +   
Hypercalcemia, Infantile, 1  
hyperphosphatemic familial tumoral calcinosis +   
Hypoadiponectinemia  
hypoinsulinemic hypoglycemia with hemihypertrophy  
hypomyelinating leukoencephalopathy 
Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity  
immunodeficiency 43  
immunoglobulin light chain amyloidosis  
inclusion body myopathy and brain white matter abnormalities  
Inosine Triphosphatase Deficiency  
INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME  
isolated elevated serum creatine phosphokinase levels  
isolated hyperchlorhidrosis  
Labrune Syndrome  
Lactate Dehydrogenase B Deficiency  
Lactic Aciduria due to D-Lactic Acid  
Leptin Receptor Deficiency  
Leukoencephalopathy with Ataxia  
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation  
Leukoencephalopathy with Dystonia and Motor Neuropathy  
leukoencephalopathy with vanishing white matter  
Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia 
LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME  
Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome  
LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS  
Leukotriene C4 Synthase Deficiency  
lipid metabolism disorder +   
lysosomal storage disease +   
Malonic Aciduria  
Mannose 6-Phosphate Receptor Recognition Defect, Lebanese Type 
Mannose-Binding Protein Deficiency  
Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency 
Metabolic Brain Diseases, Inborn +   
metal metabolism disorder +   
Methemoglobin Reductase Deficiency 
Methylmalonyl-Coenzyme A Mutase Deficiency 
mitochondrial metabolism disease +   
MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY  
Monocarboxylate Transporter 1 Deficiency  
Monocyte Esterase Deficiency  
Myeloperoxidase Deficiency  
N Acetyltransferase Deficiency +   
neonatal diabetes mellitus with congenital hypothyroidism  
Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter  
Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities  
Nonfunctional L-Gulonolactone Oxidase 
Nonspherocytic Hemolytic Anemia due to Glucose Phosphate Isomerase Deficiency  
Nonspherocytic Hemolytic Anemia, due to Hexokinase Deficiency  
Oculopharyngeal Myopathy with Leukoencephalopathy 1  
overhydrated hereditary stomatocytosis  
permanent neonatal diabetes mellitus +   
peroxisomal disease +   
Phenacetin O-Deethylase, Deficiency of  
Phenol Sulfotransferase Deficiency 
phosphoglycerate kinase 1 deficiency  
Phosphohydroxylysinuria  
plasma protein metabolism disease +   
Pontine Microangiopathy and Leukoencephalopathy, Autosomal Dominant  
Poor Drug Metabolism, CYP2C19-Related  
Poor Drug Metabolism, CYP2D6-Related  
Poor Metabolism of Proguanil  
porphyria +   
Posterior Leukoencephalopathy Syndrome  
progeria +   
Progressive Leukoencephalopathy, with Ovarian Failure  
progressive multifocal leukoencephalopathy  
purine-pyrimidine metabolic disorder +   
pyrimidine metabolic disorder +   
renal tubular transport disease +   
Retinol-Binding Protein Deficiency 
Ribose 5-Phosphate Isomerase Deficiency  
RNASET2-deficient cystic leukoencephalopathy  
SEDOHEPTULOKINASE DEFICIENCY  
sepiapterin reductase deficiency  
spastic ataxia 3  
Squalene Synthase Deficiency  
steroid inherited metabolic disorder +   
Stomatocytosis II  
Succinic Acidemia 
SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY  
Telencephalic Leukoencephalopathy 
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type)  
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)  
thiopurine S-methyltransferase deficiency +   
Thyrotropin-Releasing Hormone Deficiency  
Transcobalamin I Deficiency  
trimethylaminuria  
Trypsinogen Deficiency  
type 1 diabetes mellitus 2  
Uridine-Cytidineuria  
variant ABeta2M amyloidosis 
vascular dementia +   
vitamin metabolic disorder +   
warfarin resistance  
warfarin sensitivity +   
Weinstein Kliman Scully Syndrome 
Wiedemann Oldigs Oppermann Syndrome 
X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy   

Synonyms
Exact Synonyms: ARLIAK
Primary IDs: OMIM:618384
Xrefs: EFO:0010262
Definition Sources: OMIM:618384

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