homocystinuria/edema

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Cerebral edema associated with betaine treatment in classical homocystinuria.

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A child with cystathionine beta-synthase deficiency developed cerebral edema 4 to 6 weeks after starting betaine therapy. There was no evidence of intracranial thrombosis, but there was widespread edema of the white matter. He recovered fully after emergency decompressive craniotomy and withdrawal

Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence.

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CBS deficient individuals undergoing betaine supplementation without sufficient dietary methionine restriction can develop severe hypermethioninemia and brain edema. Brain edema has also been observed in individuals with severe hypermethioninemia without concomitant betaine supplementation. We

Progressive cerebral edema associated with high methionine levels and betaine therapy in a patient with cystathionine beta-synthase (CBS) deficiency.

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Cystathionine beta-synthase (CBS) deficiency, the most common form of homocystinuria, is an autosomal recessive inborn error of homocysteine metabolism. Treatment of B6-nonresponsive patients centers on lowering homocysteine and its disulfide derivatives (tHcy) by adherence to a

Intraoperative optical coherence tomography-guided release of lenticulo-corneal adhesion and lens aspiration in anterior dislocation of lens with corneal edema.

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To describe the outcome of microscope integrated optical coherence tomography (MiOCT) guided removal of lenticulo-corneal adhesion and intralenticular lens aspiration (ILLA) in cases with anterior dislocation of the crystalline lens and corneal

Resolution of cor pulmonale after medical management in a patient with cblC-type methylmalonic aciduria and homocystinuria: a case report.

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We describe a 3-year-old Hispanic male with cblC-type methylmalonic aciduria and homocystinuria who presented to the emergency department with progressive tachypnea, vomiting, and edema secondary to pulmonary embolism and cor pulmonale. With aggressive medical management, there was complete

The Value of 1H-MRS and MRI in Combined Methylmalonic Aciduria and Homocystinuria.

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The aims of this study were to describe the brain magnetic resonance imaging (MRI) features of methylmalonic aciduria and homocystinuria and to evaluate the additional value of H-MRS.Twenty-eight children with methylmalonic aciduria and homocystinuria were

Early-onset combined methylmalonic aciduria and homocystinuria: neuroradiologic findings.

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OBJECTIVE Combined methylmalonic aciduria and homocystinuria (MMA-HC) is caused by impaired hepatic conversion of dietary cobalamin to methylcobalamin and adenosylcobalamin, resulting in decreased activity of methylmalonyl-CoA mutase and methionine synthase. Patients with the early-onset variety

Favorable course of previously undiagnosed Methylmalonic Aciduria with Homocystinuria (cblC type) presenting with pulmonary hypertension and aHUS in a young child: a case report.

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BACKGROUND Cobalamin C (cblC) defect is the most common inborn error of Vitamin B12 metabolism often causing severe neurological, renal, gastrointestinal and hematological symptoms. Onset with pulmonary hypertension (PAH) and atypical hemolytic-uremic syndrome (aHUS) is rare. METHODS We describe the

Pharmacologic pupillary constriction after dilated fundus examination for ectopia lentis to prevent further subluxation.

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To describe two cases of ectopia lentis with different preoperative management strategies following the initial diagnostic dilated exam.In both cases, the patients presented with bilateral subluxation of the crystalline lens. Neither patient had a known

Infantile hypermethioninemia and hyperhomocysteinemia due to high methionine intake: a diagnostic trap.

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Studies were carried out to identify the cause of combined severe hypermethioninemia and moderate hyperhomocysteinemia in a cluster of 10 infants ascertained between 1999 and early 2001. Although several were thought initially to have cystathionine beta-synthase (CBS) deficiency and treated

The use of betaine in the treatment of elevated homocysteine.

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Elevation of homocysteine is implicated in multiple medical conditions, including classical homocystinuria, a variety of remethylation disorders, and most recently in coronary artery disease. Betaine is a methyl donor agent that is beneficial in lowering homocysteine through the remethylation of

Lessons Learned from Inherited Metabolic Disorders of Sulfur-Containing Amino Acids Metabolism

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The metabolism of sulfur-containing amino acids (SAAs) requires an orchestrated interplay among several dozen enzymes and transporters, and an adequate dietary intake of methionine (Met), cysteine (Cys), and B vitamins. Known human genetic disorders are due to defects in Met demethylation,

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