Niemann-Pick Type A: Causes, Symptoms, Diagnosis, and Treatment

Running head: NIEMANN-PICK TYPE A 1
Niemann-Pick Type A
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NIEMANN-PICK TYPE A 2
Introduction
Niemann-pick disorder is a group of genetic lysosomal disorders that are inherited
whereby fatty substances, namely lipids, accumulate in the liver, spleen, and brain cells. There
are three common forms of the Niemann-pick disorder namely type A, B, and C. Each type of
the disorder involves different organs and cause diversified symptoms and maybe witnessed at
different times in an individual’s life (1,2). The disease emanates from deficient functions of
Sphingomyelin phosphodiesterase (Enzyme Commission number: 3.1.4.12) (3). This essay aims
at discussing Niemann-pick disease type A disorder and current research present relevant to the
condition. The report will have four sections, namely, research, diagnosis, treatment, and policy.
Research
Niemann-pick type A is approximated to affect at least 1: 250,000 individuals. The
conditions occur more commonly Ashkenazi Jewish descent of Central and Eastern European
compared to the rest of the population. The prevalence within this population is approximated to
be 1 in 40,000 people. Mutations in the SMPD1 gene cause Niemann-pick type A disease. The
gene has an autosomal inheritance pattern. When a mutation occurs in one of the lysosomal
enzymes, there is an abnormal accumulation of the product which consequently is not
transformed by the Sphingomyelin phosphodiesterase enzyme (3). This, therefore, means the
cells cannot eliminate the accumulated substrates leading in cell damage and failure of the organ
where the accumulation is taking place (4). The SMPD1 gene is responsible for the provision of
instruction for the production of enzyme sphingomyelinase.
Niemann-pick type A disorder occurs in infancy by the age of three months and is
evidenced by an enlarged spleen and liver (hepatosplenomegaly) the failure of gaining weight

NIEMANN-PICK TYPE A 3
and grow at the anticipated rate (failure to thrive), and progressive decline of the nervous system
(4). Children with the disorder usually develop until they are one year of age when they start to
experience a gradual loss in their mental ability and psychomotor regression. The infants with
the disorder also experience an extensive lung malfunction (interstitial lung condition) that lead
to repeated lung contamination and consequently leading to lung failure (3). Due to the nervous
system involvement, the disorder is also identified among the neurological group of diseases. All
affected infants have eye anomaly termed as a cherry-red spot, which is identifiable thorough
eyes examination. The children with the disorder do not survive past early childhood.
Diagnosis
Individuals with this disorder experience some features including an engorged spleen and
liver, failure to thrive, frequent lung infections, neurological complications, developmental
delays, increased risk of abnormal blood clots, seizures, and muscle tone (5,6). Due to the rarity
of the condition, making a diagnosis of the genetic disease is often challenging. The diagnosis of
the disorder is based on medical history, physical exam, symptom, and laboratory test results.
The diagnosis of the condition begins through a physical exam, which is important in the
determination of the early warning signs, for instance, enlarged spleen, or liver. The condition
can be defined by (biopsy) using blood or a skin sample to determine how much
sphingomyelinase is found in the blood to confirm the analysis. Other diagnosis techniques
include Magnetic resonance imaging (MRI) of the bran to show damage of brain cells. An MRI
at the early stages may be identified as normal since symptoms occur before the loss of the cells
of the brain. Genetic examination of a blood sample can be used to identify the abnormal genes
attributed to the conditions (3,6). The DNA examinations can indicate the carriers of the disorder
if the mutations are defined in the first individual in a family. Eye examination of the suspected