Also known as Bassen-Kornzweig syndrome, acanthocytosis, or apolipoprotein B deficiency. A disorder of lipid metabolism characterized by fat malabsorption, acanthocytosis, retinopathy, and progressive neurologic disease.
A condition characterized by neurologic damage caused by the destruction of the covering layer (myelin sheath) of nerve cells in the brainstem (pons).
Galactosemia, an inherited disorder, is the inability of the body to metabolize galactose which results in damage to the liver, central nervous system, and other body systems. Galactose makes up half of lactose, the sugar found in milk.
A group of symptoms that may occur when there is damage to the brain and nervous system as a complication of liver disorders.
Homocystinuria is a rare metabolic condition characterized by an excess of the compound homocystine in the urine.
Kernicterus is a rare neurological disorder characterized by excessive levels of bilirubin in the blood (hyperbilirubinemia) during infancy.
Leigh's Disease is a rare inherited neurometabolic disorder. It is characterized by the degeneration of the central nervous system (i.e., brain, spinal cord, and optic nerve).
Mucolipidosis Type IV is an autosomal recessive disorder, mainly seen in Jews of Eastern European background. A cation channel disorder, characterized by severe neurological and ophthalmologic abnormalities, ML4 usually presents during the first year of life with mental retardation, corneal opacities, and delayed motor milestones. Children with ML4 typically reach a maximum developmental age of 15 months.
Sialic acid storage disease, also known as Salla disease, is a lysosomal storage disorder caused by defective transport of lysosomal degradation product, free sialic acid, across the lysosomal membrane. Functional consequences come only from central nervous system presenting slowly progressive mental retardation associated with ataxia and some other neurological manifestations. Affected infants present first signs of the disease already at 3 to 9 months of age as muscular hypotonia, truncal and limb ataxia, often transient nystagmus and delayed motor development. Developmental profile of SD patients is characterized by slowly progressive general handicap with motor performance more severely and earlier affected than cognitive skills. All patients are severely mentally retarded from third decade on. Life span of affected patients is close to normal.