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Ontology Browser
Term:
Recurrent Metabolic Crises with Variable Encephalomyopathic Features and Neurologic Regression (DOID:9007390)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1) Naked Mole-rat: (1) Green Monkey: (1)
Parent Terms Term With Siblings Child Terms
2-hydroxyglutaric aciduria +   
aceruloplasminemia  
adrenoleukodystrophy +   
agenesis of the corpus callosum with peripheral neuropathy  
alcoholic ketoacidosis 
Asparagine Synthetase Deficiency  
BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS  
branched-chain keto acid dehydrogenase kinase deficiency  
cerebral creatine deficiency syndrome 1  
Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline  
childhood-onset neurodegeneration with brain atrophy  
Childhood-Onset Neurodegeneration with Cerebellar Atrophy  
Childhood-onset Neurodegeneration with Hypotonia, Respiratory Insufficiency and Brain Imaging Abnormalities  
CST3-related cerebral amyloid angiopathy +   
Defect of Tricarboxylic Acid Cycle 
demyelinating disease +   
diabetic ketoacidosis  
Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission +   
ENCEPHALOPATHY, PORPHYRIA-RELATED  
Encephalopathy, Spastic Tetraparesis, and Hypogonadism 
eye degenerative disease +   
Feigenbaum Bergeron Richardson Syndrome 
FINCA Syndrome  
galactosemia +   
glycine encephalopathy +   
Hartnup disease  
hereditary ataxia +   
Hereditary Central Nervous System Demyelinating Diseases +   
homocarnosinosis  
homocystinuria +   
Huntington's disease-like 2  
hyperlysinemia +   
Idiopathic Basal Ganglia Calcification 1  
Idiopathic Basal Ganglia Calcification 6  
Idiopathic Basal Ganglia Calcification 7  
lactic acidosis +   
Leigh disease +   
Lesch-Nyhan syndrome +   
LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME  
Lysosomal Storage Diseases, Nervous System +   
maple syrup urine disease +   
MELAS syndrome +   
Menkes disease +   
MERRF Syndrome +   
mevalonic aciduria  
Microphthalmia and Mental Deficiency 
motor neuron disease +   
multiple system atrophy +   
myoclonic cerebellar dyssynergia +  
Nervous System Heredodegenerative Disorders +   
Nervous System Paraneoplastic Syndromes +   
NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT  
Neurodegeneration with Ataxia and Late-Onset Optic Atrophy  
neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset  
neurodegeneration with brain iron accumulation +   
NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES  
NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATAXIA AND COGNITIVE DECLINE  
NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION  
NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY  
NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA  
NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE  
neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures  
neuronal intranuclear inclusion disease  
oculocerebrorenal syndrome +   
olivopontocerebellar atrophy +   
PEHO syndrome  
phenylketonuria +   
plexopathy 
pontocerebellar hypoplasia +   
postpoliomyelitis syndrome 
primary cerebellar degeneration +   
prion disease +   
pyruvate carboxylase deficiency disease +   
pyruvate decarboxylase deficiency +   
Radiation Sensitivity Chromosome Instability Syndrome, Autosomal Dominant 
Recurrent Metabolic Crises with Variable Encephalomyopathic Features and Neurologic Regression  
Recurrent metabolic crises with variable encephalomyopathic features and neurologic regression (MECREN) is an autosomal recessive metabolic disorder with a highly variable phenotype. Most affected individuals present in the first years of life with episodic lactic acidosis associated with illness or stress, resulting in transient or permanent neurologic dysfunction. Some patients may recover, whereas others show subsequent variable developmental regression of motor and cognitive skills. Other features may include dystonia, hypotonia with inability to sit or walk, seizures, and abnormal signals in the basal ganglia. There is significant phenotypic heterogeneity, even among patients with the same mutation. MECREN is caused by homozygous mutation in the SLC25A42 gene on chromosome 19p13. (OMIM)
Refsum disease +   
secondary Parkinson disease +   
SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS  
Silengo Lerone Pelizza Syndrome 
Spastic Pseudosclerosis 
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures  
Subacute Combined Degeneration  
synucleinopathy +   
tauopathy +   
TDP-43 Proteinopathies +   
tyrosinemia +   
urea cycle disorder +   
Wilson disease +   
Zellweger syndrome +   

Synonyms
Exact Synonyms: MECREN
Primary IDs: OMIM:618416
Xrefs: EFO:0010255

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