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Refsumova choroba
Č. záznamu d012035 Dátum 06.06.2025 Typ M Tematický termín Refsumova choroba Iný termín Angličtina (Pseudonym) Heredopathia Atactica Polyneuritiformis
Angličtina (Pseudonym) HMSN Type IV
Angličtina (Pseudonym) Neuropathy, Hereditary Motor and Sensory, Type IV
Angličtina (Pseudonym) Phytanic Acid Storage Disease
Slovenčina (Pseudonym) HMSN, typ IV
Slovenčina (Pseudonym) heredopathia atactica polyneuritiformis
Slovenčina (Pseudonym) neuropatia dedičná motorická a senzorická, typ IV
Slovenčina (Pseudonym) choroba z ukladania kyseliny fytánovej
MDT C10.228.140.163.100.813C10.500.300.780C10.574.500.495.780C10.668.829.800.300.780C16.131.666.300.780C16.320.400.375.780C16.320.565.189.813C16.320.565.663.760C18.452.132.100.813C18.452.648.189.813C18.452.648.663.760 Poznámka 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. 
predmetové heslo
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