G60.1

Refsum’s disease

A genetic disorder characterized by abnormalities in the breakdown of phytanic acid. It results in accumulation of phytanic acid in the blood, brain and other tissues. Signs and symptoms include retinitis pigmentosa which may lead to blindness, hearing problems and deafness, hypotonia, ataxia, nystagmus, facial deformities, and mental and growth retardation.

A rare autosomal recessive disorder characterized by abnormalities in the breakdown of phytanic acid and impaired growth of myelin sheaths. Signs and symptoms include neurologic damage, cerebellar degeneration, and neuropathy.

An autosomal recessive familial disorder that usually presents in childhood with polyneuropathy; sensorineural hearing loss; ichthyosis; ataxia; retinitis pigmentosa; and cardiomyopathies. from Joynt, Clinical Neurology, 1991, ch37, p58-9; rev med interne 1996;17 5):391-8) this condition can be caused by mutation in the genes encoding peroxisomal phytanoyl-coa hydroxylase or proteins associated peroxisomal membrane, leading to impaired catabolism of phytanic acid in peroxisomes.

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.

Autosomal recessive disorder of lipid metabolism in which deficiency of phytanic acid alpha-hydroxylase results in accumulation of phytanic acid; manifested chiefly by chronic polyneuritis, retinitis pigmentosa, cerebellar ataxia and elevation of protein in cerebrospinal fluid.

G60.1 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes.

This is the American ICD-10-CM version of G60.1 – other international versions of ICD-10 G60.1 may differ.