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:

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 06/01/2010 - "The method allowed detection of fatty aldehyde dehydrogenase activity in nanogram amounts of microsomal or tissue protein and microgram amounts of Sjogren Larsson syndrome patients' skin fibroblast protein. " 04/22/1999 - "To determine the spectrum of clinical and MRI/1H MRS features of patients with fatty aldehyde dehydrogenase (FALDH) deficiency. " 04/17/1997 - "To better understand the genetic disorder Sjogren-Larsson syndrome which is caused by a deficiency of fatty aldehyde dehydrogenase activity, we determined the subcellular localization of the enzyme and investigated its biochemical properties. " 02/01/2000 - "The Sjögren-Larsson syndrome (SLS) is a severe neurocutaneous disorder due to fatty aldehyde dehydrogenase (FALDH) deficiency. " 01/15/2012 - "Sjogren-Larsson syndrome (SLS) is a rare autosomal recessive disorder characterized by ichthyosis, spastic di- or tetraplegia and mental retardation due a defect of the fatty aldehyde dehydrogenase (FALDH), related to mutations in the ALDH3A2 gene. "
2.	Pyridoxine (Pyridoxin)FDA LinkGeneric 01/01/2015 - "ALDH superfamily genes associated mutations are implicated in various diseases, such as pyridoxine-dependent seizures, gamma-hydroxybutyric aciduria, type II Hyperprolinemia, Sjogren-Larsson syndrome including cancer and Alzheimer's disease. "
3.	NAD (NADH)IBA 06/01/2005 - "Sjogren-Larsson Syndrome (SLS) is caused by an autosomal recessive defect in the gene coding for fatty aldehyde dehydrogenase (FALDH), an enzyme necessary for the oxidation of long-chain aliphatic aldehydes to fatty acid as one enzyme of the fatty alcohol:nicotinamide-adenine dinucleotide (NAD+)-oxidoreductase complex (FAO). "
4.	Unsaturated Fatty Acids (Polyunsaturated Fatty Acids)IBA 05/01/1988 - "The authors describe a typical case of Sjogren-Larsson Syndrome showing a clear improvement of the spastic paresis after 2 years of physiotherapy and a diet rich in polyunsaturated fatty acids."
5.	AldehydesIBA 06/01/2005 - "Sjogren-Larsson Syndrome (SLS) is caused by an autosomal recessive defect in the gene coding for fatty aldehyde dehydrogenase (FALDH), an enzyme necessary for the oxidation of long-chain aliphatic aldehydes to fatty acid as one enzyme of the fatty alcohol:nicotinamide-adenine dinucleotide (NAD+)-oxidoreductase complex (FAO). "
6.	Aldehyde DehydrogenaseIBA 06/01/2002 - "This genetic disease is due to fatty acid aldehyde dehydrogenase (FALDH) deficiency, leading to an accumulation of long-chain alcohols. "
7.	AlcoholsIBA 06/01/2002 - "This genetic disease is due to fatty acid aldehyde dehydrogenase (FALDH) deficiency, leading to an accumulation of long-chain alcohols. "
8.	HyperprolinemiaIBA 01/01/2015 - "ALDH superfamily genes associated mutations are implicated in various diseases, such as pyridoxine-dependent seizures, gamma-hydroxybutyric aciduria, type II Hyperprolinemia, Sjogren-Larsson syndrome including cancer and Alzheimer's disease. "
9.	HistidinemiaIBA 05/01/1963 - "Sjogren-Larsson syndrome and histidinemia: hereditary biochemical diseases with defects of speech and oral functions."
10.	Rud SyndromeIBA 03/01/1973 - "[Coexistence of Sjogren-Larsson syndrome and Rud's syndrome in the same family]."