ODCs

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1 OMIM reference -
1 associated gene
19 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

1 OMIM reference -
1 associated gene
7 signs/symptoms

Carnitine palmitoyl transferase 1A deficiency

Carbamoylphosphate synthetase deficiency


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CPT1A	(0.49)	CPS1

Citations in the biomedical literature:

Carnitine palmitoyl transferase 1A deficiency		Carbamoylphosphate synthetase deficiency
	Synonym(s): - CPT1A deficiency - Carnitine palmitoyl transferase IA deficiency - Hepatic carnitine palmitoyl transferase 1 deficiency - Hepatic carnitine palmitoyl transferase I deficiency - L-CPT1 deficiency - L-CPTI deficiency		Synonym(s): - CPS1 deficiency - Carbamoyl phosphate synthetase 1 deficiency

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

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

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: any age Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive

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


COMMON SIGNS	- Autosomal recessive inheritance - Hypotonia - Seizures / epilepsy / absences / spasms / status epilepticus

Carnitine palmitoyl transferase 1A deficiency		Carbamoylphosphate synthetase deficiency
	Very frequent - Areflexia / hyporeflexia - Asthenia / fatigue / weakness - Hepatocellular liver disease / hepatic failure - Hypoglycemia - Metabolic anomalies - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Psychic / behavioural troubles - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Frequent - Hemiplegia / diplegia / hemiparesia / limb palsy - Hepatomegaly / liver enlargement (excluding storage disease) - Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia - Obnubilation / coma / lethargia / desorientation Occasional - Cardiac rhythm disorder / arrhythmia - Cardiomyopathy / hypertrophic / dilated - Collapse / sudden death / cardiac arrest / cardiorespiratory arrest - Renal tubular defect / tubulopathy		Very frequent - Aminoacid metabolism anomalies / aminoaciduria - Hyperammonemia - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Stillbirth / neonatal death