infantile Refsum disease

Term ID

DOID:0050444

Synonyms

• infantile phytanic acid storage disease

Definition

A peroxisomal disease that is characterized by neurological impairment, intellectual disability, hepatosplenomegaly and ichthyosis and results from the accumulation of very long chain fatty acids and phytanic acid, secondary to mutation in the PEX genes. https://www.ninds.nih.gov/Disorders/All-Disorders/Infantile-Refsum-Disease-Information-Page

References

• ICD10CM:G60.1
• MESH:D052919
• NCI:C84789
• SNOMEDCT_US_2023_03_01:238062008
• UMLS_CUI:C0282527

Ontology

Human Disease   ( DOID:0050444 )