Total 20 clinical symptoms reported for Fructose-biphosphatase deficiency
| Apneic episodes in infancy |
Recurrent episodes of apnea occurring during infancy.
|
Occasional |
| Coma |
The complete absence of wakefulness and consciousness, which is evident through a lack of response to any form of external stimuli.
Synonyms:Coma; Persistent vegetative state; Stupor; Unconsciousness |
Occasional |
| Drowsiness |
Abnormal feeling of sleepiness or difficulty staying awake.
Synonyms:Abnormal drowsiness; Drowsiness; Sleepiness; Sleepy; Somnolence |
Occasional |
| Dyspnea |
Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.
Synonyms:Abnormal breathing; Breathing difficulty; Difficult to breathe; Difficulty breathing; Shortness of breath; Trouble breathing |
Occasional |
| Episodic tachypnea |
Episodes of very rapid breathing.
Synonyms:Hyperpnea, episodic |
Occasional |
| Excessive daytime somnolence |
A state of abnormally strong desire for sleep during the daytime.
Synonyms:Excessive daytime sleepiness; More than typical sleepiness during day |
Occasional |
| Hepatomegaly |
Abnormally increased size of the liver.
Synonyms:Enlarged liver |
Occasional |
| Hypotonia |
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.
Synonyms:Low muscle tone; Low or weak muscle tone; Muscle hypotonia; Muscular hypotonia |
Occasional |
| Intellectual disability |
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Synonyms:Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation |
Occasional |
| Intermittent hyperventilation |
Episodic hyperventilation.
Synonyms:Episodic hyperventilation; Intermittent overbreathing |
Occasional |
| Irritability |
A proneness to anger, i.e., a tendency to become easily bothered or annoyed.
Synonyms:Irritability; Irritable; Irritable mood |
Occasional |
| Pallor |
Abnormally pale skin.
|
Occasional |
| Reduced consciousness |
Abnormally diminished level of attention, responsiveness, or wakefulness.
Synonyms:Disturbances of consciousness; Lowered consciousness; Reduced consciousness/confusion |
Occasional |
| Respiratory distress |
Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.
Synonyms:Breathing difficulties; Labored breathing; Respiratory difficulties |
Occasional |
| Reye syndrome-like episodes |
Repeated occurrences of acute noninflammatory encephalopathy and fatty degenerative liver failure.
|
Occasional |
| Seizure |
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Synonyms:Epileptic seizure; Seizures |
Occasional |
| Tachycardia |
A rapid heartrate that exceeds the range of the normal resting heartrate for age.
Synonyms:Fast heart rate; Heart racing; Racing heart |
Occasional |
| Ventriculomegaly |
An increase in size of the ventricular system of the brain.
Synonyms:Cerebral ventricular dilatation; Dilated cerebral ventricle; Dilated cerebral ventricles; Dilated ventricles; Enlarged cerebral ventricles; Enlarged ventricles; Enlarged ventricular system; Large cerebral ventricles and cisternae; Ventricular dilatation |
Occasional |