Clinical & Diagnosis

April 7th, 2016 |

Clinical presentation and Diagnosis of ALD

ALD is an inherited metabolic storage disease whereby a defect in a specific enzyme results in the accumulation of very long-chain fatty acids (VLCFA) in tissues of the body. But especially the brain, spinal cord, peripheral nerves, the adrenal glands and testis are affected. Ultimately the myelin sheath that surrounds the nerves is destroyed causing neurologic problems, and the adrenal gland malfunction causes Addison’s disease.

This section is focused on the clinical presentation of the disease and the diagnosis of ALD.

afbeelding van de Engelse vlag English    afbeelding van de Nederlandse vlag Nederlands    afbeelding van de Franse vlag Français   afbeelding van de Spaanse vlag Español   afbeelding van de Duitse vlag Deutsch