Isolated sedoheptulokinase deficiency is a rare inherited disorder caused by a deficiency of the enzyme sedoheptulokinase (SHPK). This enzyme is involved in the metabolism of the sugar sedoheptulose, which is found in some fruits and vegetables. People with this disorder have difficulty breaking down sedoheptulose, leading to an accumulation of the sugar in the body. Symptoms of this disorder can include poor growth, intellectual disability, seizures, and vision problems. Treatment typically involves dietary modifications and supplementation with other enzymes.

The symptoms of Isolated sedoheptulokinase deficiency include:

-Lethargy
-Poor feeding
-Vomiting
-Failure to thrive
-Hypoglycemia
-Liver dysfunction
-Hyperammonemia
-Hyperbilirubinemia
-Hepatomegaly
-Ascites
-Hypotonia
-Developmental delay
-Seizures
-Hepatic encephalopathy

Isolated sedoheptulokinase deficiency is caused by mutations in the SED7 gene. These mutations can be inherited in an autosomal recessive pattern, meaning that both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but usually do not show signs and symptoms of the condition.

The primary treatment for Isolated sedoheptulokinase deficiency is dietary management. This includes a low-protein diet, with the goal of reducing the amount of dietary protein that is metabolized to ammonia. Additionally, supplementation with essential amino acids and other nutrients may be recommended. Other treatments may include medications to reduce ammonia levels, such as L-ornithine-L-aspartate, and medications to reduce the risk of seizures, such as valproic acid. In some cases, a liver transplant may be recommended.

1. Genetic inheritance: Isolated sedoheptulokinase deficiency is an inherited disorder caused by mutations in the SED7 gene.

2. Ethnicity: Isolated sedoheptulokinase deficiency is more common in individuals of Ashkenazi Jewish descent.

3. Age: Isolated sedoheptulokinase deficiency is more likely to occur in infants and young children.

At this time, there is no known cure or medications for Isolated sedoheptulokinase deficiency. Treatment focuses on managing the symptoms and preventing complications. This may include dietary changes, physical therapy, and medications to control seizures.