Don’t fight Carnitine palmitoyltransferase 2 deficiency alone.
Find your community on the free RareGuru App.Carnitine palmitoyltransferase 2 (CPT2) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). There are three main types of CPT2 deficiency: a lethal neonatal form, a severe infantile hepatocardiomuscular form, and a myopathic form. The neonatal and infantile forms are severe multisystemic diseases characterized by liver failure with hypoketotic hypoglycemia (extremely low levels of ketones (substances produced when fat cells break down in the blood) and low blood sugar), cardiomyopathy, seizures, and early death. The myopathic form is characterized by exercise-induced muscle pain and weakness and occasional myoglobinuria (rust-colored urine indicating breakdown of muscle tissue). Mutations in the CPT2 gene cause CPT2 deficiency. It is inherited in an autosomal recessive pattern. Treatment is based on avoidance of prolonged fasting and a low-fat and high-carbohydrate diet.
Source: GARD Last updated on 05-01-20
80%-99% of people have these symptoms.
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30%-79% of people have these symptoms.
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Renal insufficiency |
Multicystic kidney dysplasia |
Cerebral calcification |
Hypersexuality |
Reduced number of teeth |
5%-29% of people have these symptoms.
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Uterus didelphys |
Chromosomal breakage induced by crosslinking agents |
Kernicterus |
Adrenal overactivity |
Coma |
Encephalitis |
Hypoglycemia |
Sudden cardiac death |
The Newborn Screening Coding and Terminology Guide created by the National Library of Medicine (NLM) at the National Institutes of Health (NIH) promotes and facilitates the use of electronic health data standards in recording and transmitting newborn screening test results. The Web site includes standard codes and terminology for newborn tests and conditions for which they screen, and links to related sites. Click on the link to view details for this condition.
Last updated on 04-27-20
Simone Albers, et al. Detection of Neonatal Carnitine Palmitoyltransferase II Deficiency by Expanded Newborn Screening With Tandem Mass Spectrometry. Pediatrics , Jun 2001;107:e103.
Last updated on 04-27-20
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