Question: How many people are affected by carnitine palmitoyltransferase II deficiency ?
Answer: CPT II deficiency is a rare disorder. The lethal neonatal form has been described in at least 18 families, while the severe infantile hepatocardiomuscular form has been identified in approximately 30 families. The myopathic form occurs most frequently, with more than 300 reported cases.
Source: GHR

Question: What are the treatments for carnitine palmitoyltransferase II deficiency ?
Answer: These resources address the diagnosis or management of CPT II deficiency: - Baby's First Test - FOD (Fatty Oxidation Disorders) Family Support Group: Diagnostic Approach to Disorders of Fat Oxidation - Information for Clinicians - Gene Review: Gene Review: Carnitine Palmitoyltransferase II Deficiency - Genetic Testing Registry: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET - Genetic Testing Registry: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL - Genetic Testing Registry: Carnitine palmitoyltransferase II deficiency - Genetic Testing Registry: Carnitine palmitoyltransferase II deficiency, infantile 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