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Approach to the Patient with Hyperhomocysteinemia

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Hyperhomocysteinaemia (HHC) may occur as a result of a variety of inherited and acquired conditions ranging from mild and benign to severe and life threatening, and there is a higher probability that they will first manifest during early adulthood rather than infancy, with acquired forms commonly presenting into old age. Milder forms of HHC may exist without homocystinuria, and screening tests relying on the presence of homocystine in the urine will give a false negative result. Methylcobalamin is an essential cofactor for methionine synthase, a key enzyme in the homocysteine remethylation pathway: consequently, investigation for inherited abnormalities of intracellular B12 metabolism forms an integral part of the biochemical investigation of HHC. Additionally, there are acquired forms of HHC, notably those involving vitamin B12 deficiency and malabsorption. Mild to moderate HHC has also been associated with alcohol abuse, excessive caffeine intake, hypothyroidism, and poor renal function.
Title: Approach to the Patient with Hyperhomocysteinemia
Description:
Hyperhomocysteinaemia (HHC) may occur as a result of a variety of inherited and acquired conditions ranging from mild and benign to severe and life threatening, and there is a higher probability that they will first manifest during early adulthood rather than infancy, with acquired forms commonly presenting into old age.
Milder forms of HHC may exist without homocystinuria, and screening tests relying on the presence of homocystine in the urine will give a false negative result.
Methylcobalamin is an essential cofactor for methionine synthase, a key enzyme in the homocysteine remethylation pathway: consequently, investigation for inherited abnormalities of intracellular B12 metabolism forms an integral part of the biochemical investigation of HHC.
Additionally, there are acquired forms of HHC, notably those involving vitamin B12 deficiency and malabsorption.
Mild to moderate HHC has also been associated with alcohol abuse, excessive caffeine intake, hypothyroidism, and poor renal function.

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