Pseudo-Hurler polydystrophy, also referred to as

mucolipidosis Mucolipidosis is a group of inherited metabolic disorders that affect the body's ability to carry out the normal turnover of various materials within cells. When originally named, the mucolipidoses derived their name from the similarity in pre ...

III (ML III), is a

lysosomal storage disease Lysosomal storage diseases (LSDs; ) are a group of over 70 rare inherited metabolic disorders that result from defects in lysosomal function. Lysosomes are sacs of enzymes within cells that digest large molecules and pass the fragments on to other ...

closely related to

I-cell disease Inclusion-cell (I-cell) disease, also referred to as mucolipidosis II (ML II), is part of the lysosomal storage disease family and results from a defective phosphotransferase (an enzyme of the Golgi apparatus). This enzyme transfers phosphate to ...

(ML II). This disorder is called Pseudo-Hurler because it resembles a mild form of

Hurler syndrome Hurler syndrome, also known as mucopolysaccharidosis Type IH (MPS-IH), Hurler's disease, and formerly gargoylism, is a genetic disorder that results in the buildup of large sugar molecules called glycosaminoglycans (GAGs) in lysosomes. The inab ...

, one of the

mucopolysaccharide Glycosaminoglycans (GAGs) or mucopolysaccharides are long, linear polysaccharides consisting of repeating disaccharide units (i.e. two-sugar units). The repeating two-sugar unit consists of a uronic sugar and an amino sugar, except in the case o ...

(MPS) diseases.

Signs and symptoms

Symptoms of ML III are often not noticed until the child is 3–5 years of age. Patients with ML III are generally of normal

intelligence Intelligence has been defined in many ways: the capacity for abstraction, logic, understanding, self-awareness, learning, emotional knowledge, reasoning, planning, creativity, critical thinking, and problem-solving. More generally, it can b ...

(trait) or have only mild

mental retardation Intellectual disability (ID), also known as general learning disability in the United Kingdom and formerly mental retardation,Rosa's Law, Pub. L. 111-256124 Stat. 2643(2010). is a generalized neurodevelopmental disorder characterized by signific ...

.(Intelligence is challenged) instead of using the mental retardation classification. These patients usually have skeletal abnormalities, coarse facial features, short height, corneal clouding,

carpal tunnel syndrome Carpal tunnel syndrome (CTS) is the collection of symptoms and signs associated with median neuropathy at the carpal tunnel. Most CTS is related to idiopathic compression of the median nerve as it travels through the wrist at the carpal tunn ...

aortic valve The aortic valve is a valve in the heart of humans and most other animals, located between the left ventricle and the aorta. It is one of the four valves of the heart and one of the two semilunar valves, the other being the pulmonary valve. The ...

disease and mild enlargement of organs. Some children with severe forms of this disease do not live beyond childhood. However, there is a great variability among patients - there are diagnosed individuals with ML III living in their sixties.

Pathophysiology

As in Mucolipidosis II, Mucolipidosis III results from genetic defects in GlcNAc phosphotransferase ( N-acetylglucosamine-1-phosphotransferase). However, ML III produces less severe symptoms and progresses more slowly, probably because the defect in GlcNAc phosphotranspherase lies in its protein recognition domain.Murray, R, Granner, D, and Rodwell, V. (2006). Harper's Illustrated Biochemistry. 27th ed. New York: Lange Medical Books/McGraw-Hill. Therefore, the catalytic domain retains some of its activity, resulting in a smaller accumulation of carbohydrates, lipids, and proteins in the

inclusion bodies Inclusion bodies are aggregates of specific types of protein found in neurons, a number of tissue cells including red blood cells, bacteria, viruses, and plants. Inclusion bodies of aggregations of multiple proteins are also found in muscle cells ...

Diagnosis

Treatment

There is no cure for Pseudo-Hurler Polydystrophy/Mucolipidosis IIIA. Treatment is limited to controlling or reducing symptoms associated with this disorder. Physio-therapy, particularly

hydrotherapy Hydrotherapy, formerly called hydropathy and also called water cure, is a branch of alternative medicine (particularly naturopathy), occupational therapy, and physiotherapy, that involves the use of water for pain relief and treatment. The term ...

has proven effective at relieving muscle stiffness and increasing mobility. The use of crutches, a wheelchair or scooters are treatment options as the metabolic bone disease progresses. The insertion of rods in the spine to stabilize the vulnerable areas can treat

scoliosis Scoliosis is a condition in which a person's spine has a sideways curve. The curve is usually "S"- or "C"-shaped over three dimensions. In some, the degree of curve is stable, while in others, it increases over time. Mild scoliosis does not t ...

. Heart valve replacement surgery may be necessary as this disorder progresses, Enzyme replacement therapy has been suggested as a potential treatment

References

External links