Phenotypes associated with the disease very long chain acyl-CoA dehydrogenase deficiency (OMIM:201475):
- Hepatic steatosis (HP:0001397): Steatosis is a term used to denote lipid accumulation within hepatocytes. Evidence: PCS. Frequency: 2/2. (PMID:4022672)
- Lethargy (HP:0001254): A state of fatigue, either physical or mental slowness and sluggishness, with difficulties in initiating or performing simple tasks. Distinguished from apathy which implies indifference and a lack of desire or interest in the task. A person with lethargy may have the desire, but not the energy to engage in personal or socially relevant tasks. Evidence: PCS. Frequency: 3/3. (PMID:4022672)
- Bilateral tonic-clonic seizure (HP:0002069): A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase. Evidence: PCS. Frequency: 1/3. (PMID:4022672)
- Elevated circulating creatine kinase activity (HP:0003236): The activity of creatine kinase in the blood circulation is above the upper limit of normal. Evidence: TAS. (OMIM:201475)
- Muscle stiffness (HP:0003552): A condition in which muscles cannot be moved quickly without accompanying pain or spasm. Evidence: IEA. (OMIM:201475)
- Decreased circulating carnitine concentration (HP:0003234): Concentration of carnitine in the blood circulation below the lower limit of normal. Evidence: PCS. Frequency: 3/3. (PMID:4022672)
- Hypotonia (HP:0001252): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: PCS. Frequency: 3/3. (PMID:4022672)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: PCS. Frequency: 3/3. (PMID:4022672)
- Gastroesophageal reflux (HP:0002020): A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter. Evidence: PCS. Frequency: 1/3. (PMID:4022672)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 1/3. (PMID:4022672)
- Reduced left ventricular ejection fraction (HP:0012664): A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle. Evidence: PCS. Frequency: 1/3. (PMID:4022672)
- Exercise-induced rhabdomyolysis (HP:0009045): Rhabdomyolysis induced by exercise. Evidence: IEA. (OMIM:201475)
- Periportal fibrosis (HP:0001405): The presence of fibrosis affecting the interlobular stroma of liver. Evidence: PCS. Frequency: 1/3. (PMID:4022672)
- Hepatocellular necrosis (HP:0001404). Evidence: IEA. (OMIM:201475)
- Hyperammonemia (HP:0001987): An increased concentration of ammonia in the blood. Evidence: PCS. Frequency: 3/3. (PMID:4022672)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: TAS. (OMIM:201475)
- Death in infancy (HP:0001522): Death within the first 24 months of life. Evidence: PCS. Frequency: 1/3. (PMID:4022672)
- Sudden cardiac death (HP:0001645): The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset). Evidence: IEA. (OMIM:201475)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 2/3. (PMID:4022672)
- Respiratory arrest (HP:0005943). Evidence: PCS. Frequency: 2/3. (PMID:4022672)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: PCS. Frequency: 2/3. (PMID:4022672)
- Cardiomegaly (HP:0001640): Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography. Evidence: PCS. Frequency: 2/3. (PMID:4022672)
- Episodic vomiting (HP:0002572): Paroxysmal, recurrent episodes of vomiting. Evidence: PCS. Frequency: 3/3. (PMID:4022672)
- Diminished tissue very long-chain acyl-CoA dehydrogenase activity (HP:6000860): Diminished activity of Very long-chain acyl-CoA dehydrogenase (VLCAD), an enzyme that catalyzes the initial step of mitochondrial beta-oxidation of long-chain fatty acids with a chain length of 14 to 20 carbons. VLCAD activity can be measured with biochemical testing using cultured fibroblasts or lymphocytes. Evidence: TAS. (OMIM:201475)
- Necrotizing enterocolitis (HP:0033165): Inflammation of the intestine leading to bacterial invasion causing cellular damage and death which causes necrosis of the colon and intestine. Evidence: PCS. Frequency: 1/3. (PMID:4022672)
- Hypertrophic cardiomyopathy (HP:0001639): Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality. Evidence: PCS. Frequency: 3/3. (PMID:4022672)
- Nonketotic hypoglycemia (HP:0001958). Evidence: PCS. (PMID:4022672)
- Exercise-induced myalgia (HP:0003738): The occurrence of an unusually high amount of muscle pain following exercise. Evidence: IEA. (OMIM:201475)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:7668252)
- Exercise-induced myoglobinuria (HP:0008305): Presence of myoglobin in the urine following exercise. Evidence: IEA. (OMIM:201475)
- Tachypnea (HP:0002789): Very rapid breathing. Evidence: IEA. (OMIM:201475)
- Dicarboxylic aciduria (HP:0003215): An increased concentration of dicarboxylic acid in the urine. Evidence: IEA. (OMIM:201475)