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GTR Home > Conditions/Phenotypes > Fatty acyl-CoA reductase 1 deficiency

Fatty acyl-CoA reductase 1 deficiency

Synonyms
Peroxisomal fatty acyl-coa reductase 1 disorder
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Peroxisomal fatty acyl-CoA reductase-1 disorder (PFCRD) is an autosomal recessive disorder characterized by onset in infancy of severely delayed psychomotor development, growth retardation with microcephaly, and seizures. Some patients may have congenital cataracts and develop spasticity later in childhood. Biochemical studies tend to show decreased plasmalogen, consistent with a peroxisomal defect. The disorder is reminiscent of rhizomelic chondrodysplasia punctata (see, e.g., RCDP1, 215100), although the characteristic skeletal abnormalities observed in RCDP are absent (Buchert et al., 2014). [from OMIM]

Available tests

12 tests are in the database for this condition.

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Clinical tests (12 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CSPSD, MLSTD2, PFCRD, SDR10E1, FAR1
    Summary: fatty acyl-CoA reductase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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