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Sjogren-Larsson Syndrome

An autosomal recessive neurocutaneous disorder characterized by severe ichthyosis MENTAL RETARDATION; SPASTIC PARAPLEGIA; and congenital ICHTHYOSIS. It is caused by mutation of gene encoding microsomal fatty ALDEHYDE DEHYDROGENASE leading to defect in fatty alcohol metabolism.
Also Known As:
FALDH Deficiency; Fatty Alcohol:NAD+ Oxidoreductase Deficiency; Fatty Aldehyde Dehydrogenase Deficiency; Fatty Aldehyde Dehydrogenase Deficiency Disease; Ichthyosis, Spastic Neurologic Disorder, and Oligophrenia; Sjogren Larsson Syndrome
Networked: 12 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1. Muscle Spasticity (Spastic)
2. Neurocutaneous Syndromes (Phakomatoses)
3. Seizures (Seizure)
4. Quadriplegia (Locked In Syndrome)
5. Paresis (Hemiparesis)

Experts

1. Wanders, Ronald J A: 2 articles (01/2012 - 06/2010)
2. Priyadharshini Christy, J: 1 article (01/2015)
3. George Priya Doss, C: 1 article (01/2015)
4. Combes, Patricia: 1 article (01/2012)
5. Dorboz, Imen: 1 article (01/2012)
6. Francannet, Christine: 1 article (01/2012)
7. Eymard-Pierre, Eléonore: 1 article (01/2012)
8. Sarret, Catherine: 1 article (01/2012)
9. Giraud, Geneviève: 1 article (01/2012)
10. Boespflug-Tanguy, Odile: 1 article (01/2012)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Sjogren-Larsson Syndrome:
1. long-chain-aldehyde dehydrogenaseIBA
2. Pyridoxine (Pyridoxin)FDA LinkGeneric
3. NAD (NADH)IBA
4. Unsaturated Fatty Acids (Polyunsaturated Fatty Acids)IBA
5. AldehydesIBA
6. Aldehyde DehydrogenaseIBA
7. AlcoholsIBA
8. HyperprolinemiaIBA
9. HistidinemiaIBA
10. Rud SyndromeIBA