Triose phosphate-isomerase deficiency

Triosephosphate isomerase deficiency, TPID; Triose phosphate isomerase deficiency, Deficiency of phosphotriose isomerase, Deficiency of triosephosphate mutase, TPI - Thiose phosphate isomerase deficiency

Overview

Type of disease: Rare conditions

Triose phosphate-isomerase deficiency (TPID) is a rare condition that begins shortly after birth. TPID causes hemolytic anemia and neurodegeneration. Many people with TPID do not live past early childhood.

Hemolytic anemia is when unhealthy red blood cells cannot deliver oxygen from the lungs to the rest of the body. It can cause a person to feel grumpy, tired, dizzy, and weak. Hemolytic anemia can also cause headaches, trouble focusing, pale skin, dry nails, a sore tongue, and a blue color in the whites of the eyes.

Signs of neurodegeneration (progressive damage to the nerve cells) usually begin at 6-24 months of age. Nerve cells send signals to and from the brain and control a person’s activities. There are many symptoms of neurodegeneration in TPID such as trouble walking or talking. Someone with TPID will have weak muscles that move involuntarily. This means the person may move even when they are not trying to.

Triose phosphate-isomerase deficiency is passed down from parents to their children through genes. Genes are segments of DNA that act as the body’s instruction manual. DNA is a “code” made up of small parts called nucleotides. A gene mutation is when one or more nucleotides in the DNA “code” that makes up a gene is changed. TPID is caused by a mutation in the TPI1 gene. TPID is inherited in an autosomal recessive pattern. This means that both parents pass a mutation in TPI1 down to their child in order for the child to have TPID.

Triose phosphate-isomerase deficiency can be diagnosed by blood tests. TPID can also be detected during pregnancy. The treatment for TPID includes blood transfusions. A blood transfusion is the transfer of one person’s blood to another person. Symptoms of neurodegeneration will also be treated.

If you or a family member has been diagnosed with triose phosphate-isomerase deficiency, talk to your doctor about the most current treatment options.

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