Diseases

Homocystinuria

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)

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

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)

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Classification

Broader headings

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MeSH Record

See Also

MeSH Record

Synonyms

9 entry terms
  • CBS Deficiency
  • Cystathionine Beta Synthase Deficiency
  • Cystathionine beta-Synthase Deficiency Disease
  • Deficiency Disease, Cystathionine beta-Synthase
  • CBS Deficiencies
  • Cystathionine beta Synthase Deficiency Disease
  • Deficiencies, CBS
  • Deficiency Disease, Cystathionine beta Synthase
  • Deficiency, CBS

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

History Note

1969(1967)

MeSH Record

Previous Indexing

  • Amino Acid Metabolism, Inborn Errors (1966)
  • Mental Retardation (1966)

MeSH Hierarchy

Tree Numbers

  1. C10w.228w.140w.163.100.365w
  2. C16w.320w.565w.100.480w.500w
  3. C16w.320w.565w.189.365w
  4. C17.300w.428w
  5. C18.452w.132.100.365w
  6. C18.452w.648w.100.480w.500w
  7. C18.452w.648w.189.365w

MeSH Record

NLM Classification

QU 265.5.A5

AMA Style

References

  1. National Library of Medicine. Homocystinuria. Medical Subject Headings (MeSH). 2026. Unique ID D006712. http://id.nlm.nih.gov/mesh/2026/D006712
  2. Homocystinuria. In: Wikipedia. https://en.wikipedia.org/wiki/Homocystinuria
  3. Homocystinuria. In: Wikidata. https://www.wikidata.org/wiki/Q994859