What Does NxGen MDx Screen For?
We screen for up to 120 genetic disorders that can affect your pregnancy, the health of your baby, and your family's future. You can learn more about our various screens — and which sets of screens (or "panels") align with where you are in your reproductive journey.
Carnitine Palmitoyltransferase II Deficiency
What Your Test Results Mean:
Carriers are not expected to show symptoms of this deficiency. You and your partner would both have to be carriers of carnitine palmitoyltransferase II deficiency for there to be an increased chance to have a child with symptoms; this is known as autosomal recessive inheritance. Carrier testing of your partner or donor is recommended in addition to consultation with a genetic counselor for a more detailed risk assessment.
Since this is an inherited gene change, this information may be helpful to share with family members as it may impact their family planning.
Carnitine palmitoyltransferase II deficiency (CPT II deficiency) is an inherited metabolic disorder that prevents the body from converting certain types of fats into energy. There are three forms of the disease: the lethal neonatal form, the severe infantile hepatocardiomuscular form, and the myopathic form. In the most severe form of CPT II deficiency, the lethal neonatal form, infants first begin to show signs soon after birth. Symptoms can include respiratory failure, liver failure, seizures, cardiomyopathy (weakened heart muscle), arrhythmia, or sudden death. Infants can also have episodes of hypoketotic hypoglycemia which is characterized by low blood sugar and low levels of ketones (products of the breakdown of fat that are used for energy).
In the severe infantile hepatocardiomuscular form of CPT II deficiency, signs and symptoms typically appear during the first year of life. Symptoms can include episodes of hypoketotic hypoglycemia, seizures, an enlarged liver (hepatomegaly), cardiomyopathy, and arrhythmia. Individuals with the mildest form of CPT II deficiency, the myopathic form, can first show signs and symptoms between childhood and late adulthood. Symptoms can include muscle pain and weakness triggered by periods of fasting, exercise, extreme temperatures, infections, or stress.
Prognosis depends on the type of CPT II deficiency. Infants with the lethal neonatal form usually live between a few days to a few months. Individuals with the severe infantile hepatocardiomuscular type of CPT II deficiency are at risk for liver failure, nervous system damage, coma, and sudden death. Prognosis is considered favorable for individuals with the myopathic form of CPT II deficiency, as many do not have
symptoms of the disorder between episodes. Episodes are typically manageable and individuals with this mild form can usually lead a fairly normal life.
Treatment for the lethal neonatal form and the severe infantile hepatocardiomuscular form is symptomatic as there is no cure for CPT II deficiency. For individuals with the myopathic form, treatment typically includes a high-carbohydrate, low-fat diet where fasting is avoided. Carnitine supplements may also be recommended. Diet and medications are typically managed by a metabolic physician and dietitian.
Talk to a Genetic Counselor
As a NxGen client, you'll have access to personal genetic counselors who can help explain the results of your screens and provide insight on how to move forward. To schedule a personal conference to discuss your screen results, call (855) 776-9436. or click the link below.Discuss Your Screening Results