Question: What is (are) hyperlysinemia ?
Answer: Hyperlysinemia is an inherited condition characterized by elevated blood levels of the amino acid lysine, a building block of most proteins. Hyperlysinemia is caused by the shortage (deficiency) of the enzyme that breaks down lysine. Hyperlysinemia typically causes no health problems, and most people with elevated lysine levels are unaware that they have this condition. Rarely, people with hyperlysinemia have intellectual disability or behavioral problems. It is not clear whether these problems are due to hyperlysinemia or another cause.
Source: GHR

Question: How many people are affected by hyperlysinemia ?
Answer: The incidence of hyperlysinemia is unknown.
Source: GHR

Question: Is hyperlysinemia inherited ?
Answer: This condition is inherited in an autosomal recessive pattern, which means 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 they typically do not show signs and symptoms of the condition.
Source: GHR

Question: What are the treatments for hyperlysinemia ?
Answer: These resources address the diagnosis or management of hyperlysinemia: - Genetic Testing Registry: Hyperlysinemia - Genetic Testing Registry: Saccharopinuria These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Source: GHR