Methylmalonicaciduria with homocystinuria, cbl F

Methylmalonicaciduria with homocystinuria, cblF type is a rare genetic disorder that affects the body's ability to process certain parts of proteins and fats properly. This condition is one of the combined disorders of cobalamin (vitamin B12) metabolism, specifically classified under the cobalamin F (cblF) defect. Patients with this disorder have difficulty converting methylmalonyl-CoA to succinyl-CoA and homocysteine to methionine, leading to the accumulation of methylmalonic acid and homocysteine in the body. This accumulation can cause a variety of health problems, including developmental delay, intellectual disability, failure to thrive, and various hematological and neurological abnormalities.

Symptoms and Signs

The clinical presentation of methylmalonicaciduria with homocystinuria, cblF type can vary widely among affected individuals. Symptoms typically manifest in infancy or early childhood and may include:

• Developmental delay
• Intellectual disability
• Failure to thrive
• Megaloblastic anemia
• Neurological abnormalities such as seizures
• Visual problems due to retinopathy
• Thromboembolic events (such as blood clots)

Causes

This condition is caused by mutations in the LMBRD1 gene, which is responsible for encoding a protein essential for the intracellular processing of cobalamin. The defect in the LMBRD1 gene leads to impaired synthesis of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which are crucial for the metabolism of methylmalonyl-CoA and homocysteine, respectively.

Diagnosis

Diagnosis of methylmalonicaciduria with homocystinuria, cblF type is based on clinical presentation, biochemical tests, and genetic testing. Biochemical tests typically show elevated levels of methylmalonic acid and homocysteine in the blood and urine. Genetic testing can confirm a diagnosis by identifying mutations in the LMBRD1 gene.

Treatment

Treatment for this condition is aimed at managing symptoms and preventing complications. It may include:

• Vitamin B12 supplementation
• Dietary restrictions to limit the intake of certain amino acids
• Medications to control symptoms such as seizures
• Regular monitoring for complications like thromboembolic events

Prognosis

The prognosis for individuals with methylmalonicaciduria with homocystinuria, cblF type varies depending on the severity of symptoms and the effectiveness of treatment. Early diagnosis and intervention can improve the quality of life and reduce the risk of severe complications.

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