Hypoglycemia
Hypoglycemic symptoms and manifestations can be divided into those produced by the counterregulatory hormones (epinephrine/adrenaline and glucagon) triggered by the falling glucose, and the neuroglycopenic effects produced by the reduced brain sugar.Not all of the above manifestations occur in every case of hypoglycemia. There is no consistent order to the appearance of the symptoms, if symptoms even occur. Specific manifestations may also vary by age, by severity of the hypoglycemia and the speed of the decline. In young children, vomiting can sometimes accompany morning hypoglycemia with ketosis. In older children and adults, moderately severe hypoglycemia can resemble mania, mental illness, drug intoxication, or drunkenness. In the elderly, hypoglycemia can produce focal stroke-like effects or a hard-to-define malaise. The symptoms of a single person may be similar from episode to episode, but are not necessarily so and may be influenced by the speed at which glucose levels are dropping, as well as previous incidents.
Hyperglycerolemia
The Human Phenotype Ontology provided the following list of symptoms and signs for hyperglycerolemia: Abnormality of metabolism/homeostasis, Cognitive Deficit, EMG abnormality, Muscular Hypotonia, Myopathy, Neurological speech impairment, Primary adrenal insufficiency, Short stature, Cryptorchidism, EEG abnormality, Lumbar Hyperlordosis, Reduced bone mineral density, Scoliosis, Seizures, Abnormal facial shape, and Adrenal insufficiency. Adrenal insufficiency is associated with the genetic disease X-linked adrenal hypoplasia congenita. If the glycerol kinase gene is deleted then the NROB1 gene is also often deleted, which causes X-linked adrenal hypoplasia congenita.
Glycerol and glycerol kinase activity analyses are usually not offered by routine general medical laboratories. To diagnose hyperglycerolemia, blood and urine can be tested for the amounts of glycerol present.
There are three clinical forms of GKD: infantile, juvenile, and adult. The infantile form is associated with severe developmental delay and results in a syndrome with Xp21 gene deletion with congenital adrenal hypoplasia and/or Duchenne muscular dystrophy. The infantile diagnosis is made by measuring plasma glycerol and is characterized by glycerol levels between 1.8 and 8.0 mmol/L and glyceroluria more than 360 mmol/24h. To confirm the diagnosis, genetic testing of the Xp21 gene is definitive. Children with GKD have severe hypoglycemic episodes and profound metabolic acidosis, or are completely symptom free. Individuals who are unable to form glucose from the glycerol released during triglyceride catabolism also the hypoglycemic episodes often disappear during adolescence. Patients with the juvenile and adult forms often have no symptoms and are diagnosed fortuitously when a medical professional tests for another medical condition. The juvenile form is an uncommon form characterized by Reye syndrome-like clinical manifestations including episodic vomiting, acidemia, and disorders of consciousness.