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Homocystinuria

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  1. See Also
    1. Homocysteine
    2. Inborn Error of Small Molecule Metabolism
    3. Inborn Errors of Metabolism
  2. Pathophysiology
    1. Inherited enzyme deficiency
    2. Effects
      1. Intimal fibrosis and Fiber destruction
        1. Destroys arterial elastic fibers
        2. Destroys Zonular fibers of the lens
      2. Fatty Liver infiltration
      3. Gliosis and focal necrosis of the midbrain
  3. Etiology
    1. Cystathionine B-synthase deficiency
    2. Methylene tetrahydrofolate reductase deficiency
    3. Methionine synthase defect
    4. Vitamin B12 transport or coenzyme defect
  4. Signs
    1. Mental Retardation
    2. Seizures
    3. Cataracts
    4. Lenticular subluxation
    5. Sparse hair
    6. Arachnodactyly
    7. Pectus Excavatum
    8. Long and thin trunk, arms and legs
    9. Thromboembolic phenomenon
  5. Labs
    1. Increased levels Homocysteine and methionine
      1. Present in CSF, Plasma and Urine

Homocystinuria (C0019880)

Definition (MSH)An 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 varis, 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)
Definition (CSP)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 varis, 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.
ConceptsDisease or Syndrome (T047)
ICD9270.4
MSHD006712
Englishcystathionine synthase deficiency, Homocystinuria
Spanishhomocistinuria
Parent ConceptsAmino Acid Metabolism, Inborn Errors (C0002514), Mental Retardation (C0025362), Enzyme Deficiency (C0149676), Connective Tissue Diseases (C0009782), Brain Diseases, Metabolic, Inborn (C0752109), Disorder of sulfur-bearing amino acid metabolism (C0268613), Ambiguous concept (C1274012)
SourcesCSP, DXP, MSH, MTH, MTHICD9, NDFRT, OMIM, SCTSPA, SNOMEDCT
Derived from the NIH UMLS (Unified Medical Language System)



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