Updated: 12/17/2019

Homocysteinuria

0%
Topic
Review Topic
0
0
N/A
N/A
Questions
2
0
0
0%
0%
Evidence
1
0
0
Topic
Snapshot
  • A fair skinned, blue eyes, mentallly retarded 5 year-old child is brought to the ER. He has a medical history showing failure to thrive and developmental delay. According to the mother the child developed a seizure disorder after he had a thrombolic episode involving the brain
Introduction
  • Results from abnormalities in the cysteine metabolism
  • The most classic form is autosomal recessive
    • incidence of 1/200,000
    • heterozygote carriers are symptomatic but to a lesser degree than homozygous
Presentation
  • Infants are normal at birth but soon show
    • developmental delay
    • failure to thrive
  • Symptoms mimic Marfan's Syndrome
    • fair skin
    • blue eyes
    • lens dislocation (downward)
    • arachnodactyly
    • thin bones
    • premature atherosclerosis with associated MIs and strokes
    • glaucoma
    • cataracts
    • mental retardation
    • seizures (20%)
Evaluation
  • Serum blood testing demonstrating increased levels of methionine and homocysteine
  • Genetic testing can be performed but is much more costly
Treatment
  • Some patients respond to treatment with vitamin B6
Prognosis, Prevention, and Complications
  • Thromboembolic events are more common in homocysteinuria than in the common population

Please rate topic.

Average 3.7 of 3 Ratings

Questions (2)
Question locked
Sorry, this question is for
PEAK Premium Subscribers only
Upgrade to PEAK
Question locked
Sorry, this question is for
PEAK Premium Subscribers only
Upgrade to PEAK
Evidence (1)
EXPERT COMMENTS (4)
Private Note