Total 46 clinical symptoms reported for Multiple acyl-CoA dehydrogenase deficiency
Abnormality of the genital system |
An abnormality of the genital system.
Synonyms:Genital abnormalities; Genital abnormality; Genital anomalies; Genital defects |
Uncommon |
Acute pancreatitis |
A acute form of pancreatitis.
Synonyms:Acute pancreatic inflammation; Pancreatitis, acute |
Uncommon |
Arrhythmia |
Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.
Synonyms:Abnormal heart rate; Arrhythmias; Cardiac arrhythmia; Cardiac arrhythmias; Cardiac rhythm disturbances; Heart rhythm disorders; Irregular heart beat; Irregular heartbeat |
Uncommon |
Cardiomyopathy |
A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.
Synonyms:Disease of the heart muscle |
Uncommon |
Cardiorespiratory arrest |
This information is currently in development.
|
Uncommon |
Encephalopathy |
Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state.
|
Uncommon |
Gliosis |
Gliosis is the focal proliferation of glial cells in the central nervous system.
Synonyms:Cerebral gliosis; Excess astrocytes in brain |
Uncommon |
Gray matter heterotopia |
Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter.
Synonyms:Gray matter heterotopias; Heterotopia; Heterotopias; Neuronal heterotopia |
Uncommon |
Inability to walk |
Incapability to ambulate.
Synonyms:Inability to walk; Non-ambulatory |
Uncommon |
Macrocephaly |
Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
Synonyms:Increased size of cranium; Increased size of skull; Large head; Large head circumference; Macrocrania; Megacephaly |
Uncommon |
Polycystic kidney dysplasia |
The presence of multiple cysts in both kidneys.
Synonyms:Enlarged polycystic kidneys; Polycystic kidneys |
Uncommon |
Poor head control |
Difficulty to maintain correct position of the head while standing or sitting.
Synonyms:Poor head control |
Uncommon |
Restrictive ventilatory defect |
A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus.
Synonyms:Restrictive deficit on pulmonary function testing; Restrictive deficit on pulmonary function tests; Restrictive respiratory disease; Restrictive respiratory insufficiency; Restrictive respiratory syndrome; Spirometric restriction; Stiff lung or chest wall causing decreased lung volume |
Uncommon |
Reye syndrome-like episodes |
Repeated occurrences of acute noninflammatory encephalopathy and fatty degenerative liver failure.
|
Uncommon |
Rhabdomyolysis |
Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream.
Synonyms:Breakdown of skeletal muscle |
Uncommon |
Scapular winging |
Abnormal protrusion of the scapula away from the surface of the back.
Synonyms:Scapula alata; Winged scapulae; Winged scapulas; Winged shoulder blade |
Uncommon |