Is there a cure for Fumarase deficiency?

Currently there is no effective treatment for fumarase deficiency. The goal of management is to improve symptoms, prevent complications, and increase quality of life. Examples of management options include: Standard anticonvulsant medications for seizures .

What is FH deficiency?

Clinical characteristics: Fumarate hydratase (FH) deficiency results in severe neonatal and early infantile encephalopathy that is characterized by poor feeding, failure to thrive, hypotonia, lethargy, and seizures. Dysmorphic facial features include frontal bossing, depressed nasal bridge, and widely spaced eyes.

What is the structure of fumarase?

Fumarase is classified as an all alpha protein which belongs to the L-aspartase/fumarase family. It forms a tetramer of identical subunits. Crystal structures of fumarase C revealed that the enzyme has two dicarboxylate binding sites; one was called the A site, and the second, the B site.

What is hereditary Leiomyomatosis?

Summary. Hereditary leiomyomatosis and renal cell carcinoma, also known as HLRCC, is a rare genetic disorder characterized by smooth muscle growths (leiomyomas) on the skin and uterus and an increased risk of developing kidney (renal) cancer.

How is Reed syndrome treated?

The diagnosis of Reed’s syndrome was confirmed by histopathologic examination of the patient’s dermal lesion in conjunction with her surgical and family histories. Five years after the initial presentation, the patient underwent treatment with liquid nitrogen cryotherapy for the dermal leiomyomas.

What are the signs and symptoms of fumarase deficiency?

Fumarase deficiency is an inherited condition that affects the brain and other parts of the nervous system. Signs and symptoms may include a small head ( microcephaly ), severe developmental delay, poor feeding, weak muscle tone ( hypotonia ), failure to thrive, seizures, and distinctive facial features.

What are the effects of fumarate hydratase deficiency?

Summary. Fumarate hydratase deficiency results in severe neonatal and early infantile encephalopathy that is characterized by poor feeding, failure to thrive, hypotonia, lethargy, and seizures. Dysmorphic facial features include frontal bossing, depressed nasal bridge, and widely spaced eyes. Many affected individuals are microcephalic.

Can a child with fumarase deficiency walk and talk?

Early-onset infantile encephalopathy (abnormal brain structure or function), seizures, microcephaly, and severe developmental delay are also common. Most children with fumarase deficiency do not learn to walk and talk.

Where can I get help for fumarase deficiency?

You may be able to connect with individuals and/or families affected by fumarase deficiency through Climb, the National Information Centre for Metabolic Diseases. This organization works on behalf of children, young people, adults and families affected by metabolic disease.