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Carnitine palmitoyl transferase II deficiency, myopathic form

1 OMIM reference -
1 associated gene
8 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 1

Carnitine palmitoyl transferase II deficiency, severe infantile form

1 OMIM reference -
1 associated gene
9 signs/symptoms

Carnitine palmitoyl transferase II deficiency, myopathic form

Carnitine palmitoyl transferase II deficiency, severe infantile form

CPT2

(UniProt - OMIM)

CPT2

(UniProt - OMIM)


COMMON GENES	CPT2

Citations in the biomedical literature:

Carnitine palmitoyl transferase II deficiency, myopathic form		Carnitine palmitoyl transferase II deficiency, severe infantile form
	Synonym(s): - CPT2, adult-onset form - CPT2, myopathic form - CPTII, adult-onset form - CPTII, myopathic form - Carnitine palmitoyl transferase II deficiency, adult-onset form - Carnitine palmitoyl transferase deficiency type 2, adult-onset form - Carnitine palmitoyl transferase deficiency type 2, myopathic form		Synonym(s): - CPT2, hepatocardiomuscular form - CPT2, severe infantile form - CPTII, hepatocardiomuscular form - CPTII, severe infantile form - Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form - Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form - Carnitine palmitoyl transferase deficiency type 2, severe infantile form

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: unknown Average age onset: adolescence / young Average age of death: normal Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Myopathy

Carnitine palmitoyl transferase II deficiency, myopathic form		Carnitine palmitoyl transferase II deficiency, severe infantile form
	Very frequent - Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase - Asthenia / fatigue / weakness - Autosomal recessive inheritance - Muscle anomalies - Muscle weakness / flaccidity - Myalgia / muscular pain Frequent - Renal failure		Very frequent - Cardiomyopathy / hypertrophic / dilated - Hepatomegaly / liver enlargement (excluding storage disease) - Hypoglycemia Frequent - Cardiac rhythm disorder / arrhythmia - Nausea / vomiting / regurgitation / merycism / hyperemesis - Seizures / epilepsy / absences / spasms / status epilepticus Occasional - Death in infancy - Hepatocellular liver disease / hepatic failure