Carnitine palmitoyl transferase II deficiency, myopathic form
- Synonyms
- CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, ADULT-ONSET; CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC; CPT II DEFICIENCY, MYOPATHIC; CPT II deficiency, myopathic, stress-induced; CPT2 DEFICIENCY, LATE-ONSET; Carnitine palmitoyltransferase II deficiency, late-onset; Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Excerpted from the GeneReview:Carnitine palmitoyltransferase II (CPT II) deficiency is a disorder of long-chain fatty-acid oxidation. The three clinical presentations are lethal neonatal form, severe infantile hepatocardiomuscular form, and myopathic form (which is usually mild and can manifest from infancy to adulthood). While the former two are severe multisystemic diseases characterized by liver failure with hypoketotic hypoglycemia, cardiomyopathy, seizures, and early death, the latter is characterized by exercise-induced muscle pain and weakness, sometimes associated with myoglobinuria. The myopathic form of CPT II deficiency is the most common disorder of lipid metabolism affecting skeletal muscle and the most frequent cause of hereditary myoglobinuria. Males are more likely to be affected than females.
- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Thomas Wieser
- view full author information
Available tests
86 tests are in the database for this condition.
Check Related conditions for additional relevant tests.
Clinical tests (86 available)
Biochemical Genetics Tests
Clinical features
Help- Abnormality of the genitourinary system
- Hereditary myoglobinuria
Hereditary myoglobinuria
- MedGen UID: 44557
- Concept ID: C0027080
- Finding: Finding
Abnormality of the genitourinary system
- Renal insufficiency
Renal insufficiency
- MedGen UID: 332529
- Concept ID: C1565489
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Hereditary myoglobinuria
- Abnormality of the musculoskeletal system
- Muscle spasm
Muscle spasm
- MedGen UID: 52431
- Concept ID: C0037763
- Finding: Sign or Symptom
Abnormality of the musculoskeletal system
- Muscle stiffness
Muscle stiffness
- MedGen UID: 113151
- Concept ID: C0221170
- Finding: Sign or Symptom
Abnormality of the musculoskeletal system
- Muscle weakness
Muscle weakness
- MedGen UID: 57735
- Concept ID: C0151786
- Finding: Finding
Abnormality of the musculoskeletal system
- Rhabdomyolysis
Rhabdomyolysis
- MedGen UID: 19775
- Concept ID: C0035410
- Finding: Pathologic Function
Abnormality of the musculoskeletal system
- Muscle spasm
- Constitutional symptom
- Myalgia
Myalgia
- MedGen UID: 68541
- Concept ID: C0231528
- Finding: Sign or Symptom
Constitutional symptom
- Myalgia
- ACMG ACT, 2022American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Increased C16 and/or C18:1 Acylcarnitine, Carnitine Palmitoyltransferase II (CPT II) Deficiency and Carnitine Acylcarnitine Translocase (CACT) Deficiency, 2022
- ACMG Algorithm, 2022American College of Medical Genetics and Genomics, Algorithm, C16 +/- C18:1 Elevated: CPT II or CACT, 2022
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