Michelle Luckberg P.

Sabijon

BSN 1A

Lipids Associated Diseases

1. Barth syndrome (BTHS) is a rare, genetic disorder of lipid metabolism that primarily affects
males. It is caused by a mutation in the tafazzin gene (TAZ, also called G4.5) which leads to
decreased production of an enzyme required to produce cardiolipin. Cardiolipin is an essential
lipid that is important in energy metabolism. BTHS, which affects multiple body systems, is
considered serious. Its main characteristics often include combinations in varying degrees of
heart muscle weakness (cardiomyopathy), neutropenia (low white blood cell count, which may
lead to an increased risk for bacterial infections), reduced muscle tone (hypotonia), muscle
weakness, undeveloped skeletal muscles, delayed growth, fatigue, varying degrees of physical
disability, and methylglutaconic aciduria (an increase in an organic acid that results in
abnormal mitochondria function). Although some with BTHS may have all of these
characteristics, others may have only one or two and are often misdiagnosed. BTHS is an X-
linked genetic condition passed from mother to son through the X chromosome. A mother who
is a carrier of BTHS typically shows no signs or symptoms of the disorder herself. On average,
50 percent of children born to a carrier mother will inherit the defective gene, but only boys
will develop symptoms. All daughters born to an affected male will be carriers but typically
will not have symptoms.

2. Acid lipase disease or deficiency occurs when the enzyme needed to break down certain fats
that are normally digested by the body is lacking or missing, resulting in the toxic buildup of
these fats in the body’s cells and tissues. These fatty substances, called lipids, include fatty acids,
oils, and cholesterol. Two rare lipid storage diseases are caused by the deficiency of the enzyme
lysosomal acid lipase, both of which are interited and affect males and females

 Wolman’s disease (also known as acid lipase deficiency) is marked by the buildup of cholesteryl
esters (normally a tranport form of cholesterol that brings nutrients into the cells and carries out
waste) and triglycerides (a chemical form in which fats exist in the body). Infants with the disorder
appear normal at birth but quickly develop progressive mental deterioration, low muscle tone,
enlarged liver and grossly enlarged spleen, gastrointestinal problems, jaundice, anemia, vomiting,
and calcium deposits in the adrenal glands, which causes them to harden.
 Cholesteryl ester storage disease (CESD) is an extremely rare disorder that results from storage of
cholesteryl esters and triglycerides in cells in the blood and lymph and lymphoid tissue. Children
develop an enlarged liver, leading to cirrhosis and chronic liver failure before adulthood. Children
may also develop calcium deposits in the adrenal glands and jaundice. Onset varies, and the disorder
may not be diagnosed until adulthood.
3. Fabry disease (also called alpha-galactosidase-A deficiency) is caused by the lack of or faulty
enzyme needed to metabolize lipids, fat-like substances that include oils, waxes, and fatty
acids. The mutated gene allows lipids to build up to harmful levels in the autonomic nervous
system (which controls involuntary functions such as breathing and digestion), cardiovascular
system, eyes, and kidneys. Symptoms usually begin during childhood or adolescence and may
include:

 burning sensations in the arms and legs that gets worse with exercise and hot weather,
 small, non-cancerous, raised reddish-purple blemishes on the skin,
 clouding in the corneas,
 impaired blood circulation and increased risk of heart attack or stroke,
 enlarged heart,
 kidneys may become progressively impaired, leading to renal failure, and
 decreased sweating, fever, and gastrointestinal difficulties.
Fabry disease is the only X-linked lipid storage disease (where the mother carries the affected gene on
the X chromosome that determines the child's gender and passes it to her son). Boys have a 50 percent
chance of inheriting the disorder and her daughters have a 50 percent chance of being a carrier. A
milder form is common in females, and occasionally some affected females may have severe symptoms
similar to males with the disorder.

4. Farber’s disease, also known as Farber's lipogranulomatosis, describes a group of inherited

metabolic disorders called lipid storage diseases, in which excess amounts of lipids (oils, fatty
acids, and related compounds) build up to harmful levels in the joints, tissues, and central
nervous system. The liver, heart, and kidneys may also be affected. Disease onset typically
begins in early infancy but may occur later in life. Symptoms of the classic form may have
moderately impaired mental ability and difficulty with swallowing. Other symptoms may
include chronic shortening of muscles or tendons around joints. arthritis, swollen lymph nodes
and joints, hoarseness, nodules under the skin (and sometimes in the lungs and other parts of
the body), and vomiting. Some people may need a breathing tube. In severe cases, the liver and
spleen are enlarged. Farber's disease is caused by a deficiency of the enzyme ceramidase. The
disease occurs when both parents carry and pass on the defective gene that regulates the protein
sphingomyelin. Children born to these parents have a 25 percent chance of inheriting the
disorder and a 50 percent chance of carrying the faulty gene. The disorder affects both males
and females.

5. The gangliosidoses are a group of inherited metabolic diseases caused by a deficiency of the
different proteins needed to break down fatty substances called lipids. Excess buildup of these
fatty materials (oils, waxes, steroids, and other compounds) can cause permanent damage in the
cells and tissues in the brain and nervous systems, particularly in nerve cells. There are two
distinct groups of the gangliosidoses, which affect males and females equally.

The GM1 gangliosidoses are caused by a deficiency of the enzyme beta- galactosidase
and has 3 clinical subtypes:

 Early infantile GM1 gangliosidosis (the most severe subtype, with onset shortly after birth) has
symptoms that may include nerve function degeneration, seizures, liver and spleen enlargement,
coarsening of facial features, skeletal irregularities, joint stiffness, distended abdomen, muscle
weakness, exaggerated startle response, and problems with gait. About half of affected persons
develop cherry-red spots in the eye. Children may be deaf and blind by age 1.
 Onset of late infantile GM1 gangliosidosis typically between ages 1 and 3 years. Signs include an
inability to control movement, seizures, dementia, and difficulties with speech.
 Adult GM1 gangliosidosis strikes between ages 3 and 30, with symptoms that include the wasting
away of muscles, cloudiness in the corneas, and dystonia (sustained moscle contractions that case
twisting and repetitive movements or abnormal postures). Non-cancerous skin blemishes may
develop on the lower part of the trunk of the body. Adult GM1 is usually less severe and progresses
more slowly than other forms of the disorder.
The GM2 gangliosidoses include Tay-Sachs disease and its more severe form, called Sandhoff disease,
both of which result from a deficiency of the enzyme beta-hexosaminidase. Symptoms begin by age 6
months and include progressive mental deterioration, cherry-red spots in the retina, marked startle
reflex, and seizures. Children with Tay-Sachs may also have dementia, progressive loss of hearing, some
paralysis, and difficulty in swallowing that may require a feeding tube. A rarer form of the disorder,
which occurs in individuals in their twenties and early thirties, is characterized by an unsteady gait
and progressive neurological deterioration. Additional signs of Sandhoff disease include weakness in
nerve signaling that causes muscles to contract, early blindness, spasticity, muscle contractions, an
abnormally enlarged head, and an enlarged liver and spleen.