Symptoms Often symptoms will arise that indicate the body is not absorbing or making the lipoproteins that it needs. These symptoms usually appear en masse. These symptoms come as follows: * Failure to thrive (i.e. failure to grow in infancy) * Steatorrhea (i.e. fatty, pale stools) * Frothy stools * Foul smelling stools * Protruding abdomen * Intellectual disability/developmental delay * Developmental coordination disorder, evident by age ten * Ataxia * Muscle weakness * Slurred speech (dysarthria) * Scoliosis (curvature of the spine) * Progressive decreased vision * Balance and coordination problems Signs * Acanthocytosis * Retinitis pigmentosa * Low blood cholesterol Features<unk>  affects the absorption of dietary fats, cholesterol, and certain vitamins. People affected by this disorder are not<unk> e to make certain lipoproteins, which are molecules that consist of proteins combined with cholesterol and particular fats called triglycerides. This leads to a multiple vitamin deficiency, affecting the fat-soluble vitamin A, vitamin D, vitamin E, and vitamin K. However, many of the observed effects are due to vitamin E deficiency in particular. Acanthocytosis in a patient with<unk> . Signs and symptoms vary and present differently from person to person. In general, 80–99% of individuals exhibit malabsorption of fats and fat-soluble vitamins. Approximately 30%-79% of people with the disease display symptoms of abnormality of the retinal pigmentation, ataxia, muscular hypotonia or reduced tendon reflexes. The signs and symptoms of<unk>  appear in the first few months of life (because pancreatic lipase is not active in this period). They can include failure to gain weight and grow at the expected rate (failure to thrive); diarrhea; abnormal spiny red blood cells (acanthocytosis); and fatty, foul-smelling stools (steatorrhea). The stool may contain large chunks of fat and/or blood. Infants often present with gastrointestinal problems caused by the poor fat absorption, which also contributes to steatorrhea. Other features of this disorder may develop later in childhood and often impair the function of the nervous system. They can include poor muscle coordination, difficulty with balance and movement (ataxia), and progressive degeneration of the retina (the light-sensitive layer in the posterior eye) that can progress to near-blindness (due to deficiency of vitamin A, retinol). Adults in their thirties or forties may have increasing difficulty with balance and walking. Many of the signs and symptoms of<unk>  result from a severe vitamin deficiency, especially vitamin E deficiency, which typically results in eye problems with degeneration of the spinocerebellar and dorsal column tracts.
Abetalipoproteinemia
Hypobetalipoproteinemia
Hypoalphalipoproteinemia
Familial dysbetalipoproteinemia
D-Glyceric acidemia
Lipoatrophic diabetes
Familial hypertriglyceridemia
Pipecolic acidemia