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Disease Refsum Disease, Infantile

Name Refsum Disease, Infantile
Synonyms ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | Disease, Infantile Refsum | Disease, Infantile Refsum's | Infantile Form of Phytanic Acid Storage Disease | Infantile Phytanic Acid Storage Disease | Infantile Refsum Disease | Infantile Refsum's Disease | Infantile Refsums Disease | PBD1B | PEROXISOME BIOGENESIS DISORDER 1B | PEROXISOME BIOGENESIS DISORDER (NALD/IRD) | PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE) | REFSUM DISEASE, INFANTILE | Refsum Disease, Infantile Form | Refsum's Disease, Infantile | Refsums Disease, Infantile
Definition An early onset form of phytanic acid storage disease with clinical and biochemical signs different from those of REFSUM DISEASE. Features include MENTAL RETARDATION; SENSORINEURAL HEARING LOSS; OSTEOPOROSIS; and severe liver damage. It can be caused by mutation in a number of genes encoding proteins involving in the biogenesis or assembly of PEROXISOMES.
Categories Genetic disease (inborn) | Metabolic disease | Nervous system disease
MeSH® ID D052919
OMIM® ID 601539
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1. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Central Nervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Refsum Disease, Infantile Has associated chemicals Has associated genes
2. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Refsum Disease, Infantile Has associated chemicals Has associated genes
3. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Peroxisomal Disorders Has associated chemicals Has associated genes Refsum Disease, Infantile Has associated chemicals Has associated genes
4. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Refsum Disease, Infantile Has associated chemicals Has associated genes
5. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Refsum Disease, Infantile Has associated chemicals Has associated genes
6. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Peroxisomal Disorders Has associated chemicals Has associated genes Refsum Disease, Infantile Has associated chemicals Has associated genes

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