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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
2-hydroxyglutaric aciduria +   
acute porphyria +   
adrenoleukodystrophy +   
Asparagine Synthetase Deficiency  
branched-chain keto acid dehydrogenase kinase deficiency  
cerebral creatine deficiency syndrome 1  
CST3-related cerebral amyloid angiopathy +   
cutaneous porphyria  
Defect of Tricarboxylic Acid Cycle 
Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission +   
ENCEPHALOPATHY, PORPHYRIA-RELATED  
This disease is an autosomal recessive disorder characterized by the onset of progressive neurologic abnormalities in early infancy. Features include global developmental delay, poor walking or inability to walk, impaired intellectual development, hypotonia, ataxia, dysarthria, spasticity, ocular abnormalities, and peripheral neuropathy. Laboratory studies show increased plasma and urinary levels of the putatively neurotoxic porphyrin precursors delta-aminolevulinic acid (ALA), porphobilinogen (PBG), and uroporphyrin resulting from deficient HMBS enzymatic activity.
Encephalopathy, Spastic Tetraparesis, and Hypogonadism 
galactosemia +   
glycine encephalopathy +   
Hartnup disease  
Hepatic Porphyrias +   
Hereditary Central Nervous System Demyelinating Diseases +   
homocarnosinosis  
homocystinuria +   
hyperlysinemia +   
Leigh disease +   
Lesch-Nyhan syndrome +   
LEUKOENCEPHALOPATHY, PORPHYRIA-RELATED  
Lysosomal Storage Diseases, Nervous System +   
maple syrup urine disease +   
MELAS syndrome +   
Menkes disease +   
MERRF Syndrome +   
mevalonic aciduria  
Microphthalmia and Mental Deficiency 
oculocerebrorenal syndrome +   
phenylketonuria +   
pyruvate carboxylase deficiency disease +   
pyruvate decarboxylase deficiency +   
Recurrent Metabolic Crises with Variable Encephalomyopathic Features and Neurologic Regression  
Refsum disease +   
Silengo Lerone Pelizza Syndrome 
tyrosinemia +   
urea cycle disorder +   
Wilson disease +   
Yusho Disease 
Zellweger syndrome +   

Synonyms
Exact Synonyms: ENCEP ;   porphyria-related encephalopathy
Primary IDs: MIM:620704
Definition Sources: MIM:620704

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