homocystinuria

The life expectancy of patients with homocystinuria is reduced only if untreated.

Pharmacokinetics of oral betaine in healthy subjects and patients with homocystinuria.

Betaine controls homocystinuria but does not cure it.

In addition, homocystinuria is a hereditary disease caused by the deficiency of L-serine dehydratase.

The CBS gene is the most common locus for mutations associated with homocystinuria.

Homocystinuria due to CBS deficiency is a special type of hyperhomocysteinemia.

No specific cure has been discovered for homocystinuria; however, many people are treated using high doses of vitamin B (also known as pyridoxine).

Also for those with inherited metabolic disorders, such as PKU and Homocystinuria.

In most cases, homocystinuria is caused by reduced activity of an enzyme known as cystathionine beta-synthase (CBS).

It has also been used to treat certain hereditary disorders (such as xanthurenic aciduria, cystathioninuria, hyperoxaluria, homocystinuria).

Homocystinuria (downward and inwards)

While others conducted similar experiments with baboons, McCully examined and manipulated cell cultures from children with homocystinuria.

Homocystinuria due to deficiency of CBS deficiency is inherited as an autosomal recessive trait.

Betaine is used to reduce homocysteine levels in people with a genetic condition called homocystinuria, in which the amino acid builds up in the body.

Elevations of homocysteine also occur in the rare hereditary disease homocystinuria and in the methylene-tetrahydrofolate-reductase polymorphism genetic traits.

Hypermethioninemia can occur with other metabolic disorders, such as homocystinuria, tyrosinemia and galactosemia, which also involve the faulty breakdown of particular molecules.

He became intrigued by two different cases of children with homocystinuria, a rare genetic disease in which the levels of homocysteine in the blood are unnaturally high.

In other cases, seriously thickened walls of the carotid arteries were found in young adults born with only one of the two genes that cause homocystinuria.

Betaine is used to treat homocystinuria (an inherited condition in which the body cannot break down a certain protein, causing build-up of homocysteine in the blood).

In one form of homocystinuria, activity of the deficient enzyme can be enhanced by the administration of large doses of pyridoxine (100-1000 mg/day).

It is a common feature of several kinds of hereditary disorders which affect connective tissue, such as Marfan Syndrome and homocystinuria.

He also defined new amino-acid diseases such as various forms of Fanconi syndrome, Hartnup disease, argininosuccinic aciduria and homocystinuria.

Examples include Marfan syndrome, Ehlers Danlos Syndrome and homocystinuria.

In Marfan the dislocation is typically superotemporal whereas in the similar condition homocystinuria, the dislocation is inferonasal.

Hereditary causes such as severe MTHFR deficiency, homocystinuria, and transcobalamin deficiency.