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ISSN 0185-3252 (Print)
Revista de la Asociación Médica del Centro Médico ABC

2011, Number 1

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An Med Asoc Med Hosp ABC 2011; 56 (1)

Cerebral infarction of a one year old infant secondary to homocystinuria

Botas SI, Villareal LGG, Barragán CHM, García LR

Language: Spanish
References: 31
Page: 31-37
PDF size: 251.17 Kb.


ABSTRACT

Homocystinuria refers to a group of rare inborn errors in metabolism resulting in severe hyperhomocysteinemia and has been associated with increased risk of cardiovascular disease such as myocardial infarction and stroke. It has been mentioned that homocysteine levels above 30 mmol/L represent an important risk factor; patients with homocystinuria usually have hyperhomocysteinemia › 100 mmol/L. There are 3 major causes for homocystinuria: cystathionine synthase deficiency, homozygous defects encoding methylenetetrahydrofolate reductase (MTHFR) and alterations involving the transport or metabolism of cobalamin. This is a case report of a one year old infant that came to this hospital with a temporoparietal ischemic stroke whose only factor found was MTHFR mutation.


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