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GTR Home > Conditions/Phenotypes > Encephalopathy, porphyria-related

Encephalopathy, porphyria-related

Summary

Porphyria-related encephalopathy (ENCEP) 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. The disease course is usually rapidly progressive and may lead to death in childhood. 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 (Solis et al., 2004). [from OMIM]

Available tests

3 tests are in the database for this condition.

Clinical tests (3 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ENCEP, LENCEP, PBG-D, PBGD, PORC, UPS, HMBS
    Summary: hydroxymethylbilane synthase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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