Congenital glutamine deficiency is a very rare genetic disorder, which results in very low or absent amounts of the amino acid glutamine. Amino acids are very important building blocks in the human body. Babies with this condition are born with multiple brain abnormalities, seizures, lack of muscle tone and other issues concerning their heart, lungs, skin, and bones. This condition usually causes death shortly after birth. If death does not occur children are severely handicapped.
Congenital glutamine deficiency is caused by a change (mutation) in the GLUL gene and is inherited, passed through families, in an autosomal recessive manner. Autosomal recessive means a person must have 2 mutations in order to have the condition. If both parents have only one mutation they are called carriers because they “carry” a mutated copy, these individuals usually do not show any symptoms. If two people are carriers, they have a 1 in 4 or 25% chance of having a child with this disorder.
Diagnosis is made shortly after birth through physical exam and laboratory testing where the chemical glutamine is missing from blood, urine, and cerebrospinal fluid samples. If your child has been diagnosed with congenital glutamine deficiency, talk to your doctor about current treatment options.
Description Last Updated: Feb 08, 2018