ODCs

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1 OMIM reference -
1 associated gene
12 signs/symptoms

COMMON GENES: 1

1 OMIM reference -
2 associated genes
No signs/symptoms info

Carnitine palmitoyl transferase II deficiency, neonatal form

Acute necrotizing encephalopathy of childhood

CPT2	(UniProt - OMIM)		CPT2	(UniProt - OMIM)
			RANBP2	(UniProt - OMIM)

Citations in the biomedical literature:

Carnitine palmitoyl transferase II deficiency, neonatal form		Acute necrotizing encephalopathy of childhood
	Synonym(s): - CPT2, lethal systemic form - CPT2, neonatal form - CPTII, lethal systemic form - CPTII, neonatal form - Carnitine palmitoyl transferase II deficiency, lethal systemic form - Carnitine palmitoyl transferase deficiency type 2, lethal systemic form - Carnitine palmitoyl transferase deficiency type 2, neonatal form		Synonym(s): - ANEC - Isolated ANE - Isolated acute necrotizing encephalopathy

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

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Diseases of the nervous system -

	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		Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: - Type of inheritance: sporadic

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

Carnitine palmitoyl transferase II deficiency, neonatal form
	Very frequent - Abnormal hepatic enzymes / transaminases - Asthenia / fatigue / weakness - Autosomal recessive inheritance - Cardiac rhythm disorder / arrhythmia - Cardiomegaly - Hepatomegaly / liver enlargement (excluding storage disease) - Hypoglycemia - Multicystic kidney / renal dysplasia - Seizures / epilepsy / absences / spasms / status epilepticus Frequent - Intracranial / cerebral calcifications - Renal failure - Structural anomalies of the nervous system
Acute necrotizing encephalopathy of childhood
(no data available)