GM3 synthase deficiency
GM3 synthase deficiency is characterized by recurrent seizures (epilepsy) and problems with brain development. Within the first few weeks after birth, affected infants become irritable and develop feeding difficulties and vomiting that prevent them from growing and gaining weight at the usual rate. Seizures begin within the first year of life and worsen over time. Multiple types of seizures are possible, including generalized tonic-clonic seizures (also known as grand mal seizures), which cause muscle rigidity, convulsions, and loss of consciousness. Some affected children also experience prolonged episodes of seizure activity called nonconvulsive status epilepticus. The seizures associated with GM3 synthase deficiency tend to be resistant (refractory) to treatment with antiseizure medications.
MONDO:0005093
skin disorder
excluded_subClassOf
MONDO:0019288
skin pigmentation disorder
excluded_subClassOf
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0017748
inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
is_a
MONDO:0018117
disorder of phospholipids, sphingolipids and fatty acids biosynthesis
is_a
Amish infantile epilepsy syndrome
exact
GM3 synthase deficiency
exact
SPDRS
exact
ST3GAL5-CDG
exact
disorder of lactosylceramide alpha-2,3-sialyltransferase activity
exact
epilepsy syndrome, infantile-onset symptomatic
exact
infantile-onset symptomatic epilepsy syndrome - developmental stagnation - blindness
exact
infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness syndrome
exact
lactosylceramide alpha-2,3-sialyltransferase activity disease
exact
salt & pepper syndrome
exact
salt and pepper developmental regression syndrome
exact
salt and pepper mental retardation syndrome
related