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REFSUM DISEASE [1 record]

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Alphabetical list of terms

Record 1 2024-05-17

English

Subject field(s)
  • Human Diseases
  • Nervous System
Universal entry(ies)
G60.1
classification system code, see observation
DEF

A neurocutaneous syndrome that is characterized biochemically by the accumulation of phytanic acid in plasma and tissues.

CONT

Patients with Refsum disease are unable to degrade phytanic acid because of a deficient activity of phytanoyl-CoA hydroxylase (PhyH), a peroxisomal enzyme catalyzing the first step of phytanic acid alpha-oxidation. Refsum disease can be classified as a peroxisome biogenesis disorder. This category is inherited as an autosomal recessive trait and is characterized by altered peroxisome assembly, resulting in multiple peroxisome enzyme deficiencies, complex developmental sequelae, and progressive disabilities.

OBS

G60.1: code used in the International Statistical Classification of Diseases and Related Health Problems.

French

Domaine(s)
  • Maladies humaines
  • Système nerveux
Entrée(s) universelle(s)
G60.1
classification system code, see observation
OBS

G60.1 : code de la Classification statistique internationale des maladies et des problèmes de santé connexes.

Spanish

Campo(s) temático(s)
  • Enfermedades humanas
  • Sistema nervioso
Entrada(s) universal(es)
G60.1
classification system code, see observation
DEF

Trastorno metabólico congénito de herencia autosómica recesiva que afecta a la degradación del ácido fitánico, debido a un bloqueo enzimático en su betaoxidación.

OBS

G60.1: código de la Clasificación Estadística Internacional de Enfermedades y Problemas Relacionados con la Salud.

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