encyclopedia of medical concepts
ψ 
ψ 
ψ 
ψ 
ψ 
ψ 
ψ 

Homocystinuria

More information in Books or onNLM PubMed
Definition: Autosomal recessive inborn error of methionine metabolism usually caused by a deficiency of CYSTATHIONINE BETA-SYNTHASE and associated with elevations of homocysteine in plasma and urine. Clinical features include a tall slender habitus, SCOLIOSIS, arachnodactyly, MUSCLE WEAKNESS, genu varus, thin blond hair, malar flush, lens dislocations, an increased incidence of MENTAL RETARDATION, and a tendency to develop fibrosis of arteries, frequently complicated by CEREBROVASCULAR ACCIDENTS and MYOCARDIAL INFARCTION. (From Adams et al., Principles of Neurology, 6th ed, p979)     
See Also Cystathionine beta-Synthase
Other names Cystathionine beta-Synthase Deficiency Disease; CBS Deficiency; Deficiency, CBS; Deficiency Disease, Cystathionine beta Synthase; Deficiencies, CBS; Cystathionine beta Synthase Deficiency Disease; CBS Deficiencies; Deficiency Disease, Cystathionine beta-Synthase
 
SubstanceCAS Registry & nameCategoriesSource
Methylmalonic acidemia with homocystinuria  0   *Amino Acid Metabolism, Inborn Errors *Homocystinuria.
Methylenetetrahydrofolate reductase deficiency  0   *Homocystinuria *Muscle Spasticity Psychotic Disorders Methylenetetrahydrofolate Reductase (NADPH2)/deficiency.

To share this definition, click "text" (Facebook, Twitter) or "link" (blog, mail) then paste text link
Ads by Google

Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012

Warning: the drugs or drug combinations referred to here may be similar or related, but are not be the same ones and may not have the same pharmacological action as other substances described on the same page or in the same row. Please refer to product monograph or to your doctor
This website is accredited by Health On the Net Foundation. Click to verify.
We comply with the HONcode standard for trustworthy health information: verify here.
About Reference.MD Privacy