Pseudo-Hurler polydystrophy

Pseudo-Hurler polydystrophy
Pseudo-Hurler polydystrophy
Classification and external resources
ICD-10 E77.0
ICD-9 272.7
OMIM 252600
DiseasesDB 29378
MeSH D009081

Pseudo-Hurler polydystrophy, also referred to as mucolipidosis III (ML III), is a lysosomal storage disease closely related to I-cell disease (ML II).[1] This disorder is called Pseudo-Hurler because it resembles a mild form of Hurler syndrome, one of the mucopolysaccharide (MPS) diseases.

Contents

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.[2] Therefore, the catalytic domain retains some of its activity, resulting in a smaller accumulation of carbohydrates, lipids, and proteins in the inclusion bodies.

Presentation

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 (trait) or have only mild mental retardation. These patients usually have skeletal abnormalities, coarse facial features, short height, corneal clouding, carpal tunnel syndrome, aortic valve 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, and individuals with ML III can survive until their fourth or fifth decade of life.

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 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. Heart valve replacement surgery may be necessary as this disorder progresses.

See also

References

  1. ^ Bargal R, Zeigler M, Abu-Libdeh B et al. (August 2006). "When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients". Mol. Genet. Metab. 88 (4): 359–63. doi:10.1016/j.ymgme.2006.03.003. PMID 16630736. http://linkinghub.elsevier.com/retrieve/pii/S1096-7192(06)00105-3. 
  2. ^ Murray, R, Granner, D, and Rodwell, V. (2006). Harper's Illustrated Biochemistry. 27th ed. New York: Lange Medical Books/McGraw-Hill.

External links


Wikimedia Foundation. 2010.

Игры ⚽ Поможем сделать НИР

Look at other dictionaries:

  • Pseudo-Hurler polydystrophy — A rare genetic disease that is passed on via an autosomal recessive gene. It is characterized by abnormal lysosomal enzyme transport in cells of mesenchymal origin, causing elevated lysosomal enzymes in body fluids and tissues. Diagnosis is by… …   Medical dictionary

  • polidistrofia de Pseudo-Hurler — Eng. Pseudo Hurler polydystrophy Mucolipidosis similar a la enfermedad de células de inclusión pero presentando un menor grado de severidad, con un menor retraso psicomotor y unas mejores expectativas de vida. Presentan opacidades corneales y… …   Diccionario de oftalmología

  • variant pseudo-Hurler polydystrophy — mucolipidosis III gamma …   Medical dictionary

  • polydystrophy — A condition characterized by the presence of many congenital anomalies. [poly + dystrophy] pseudo Hurler p. SYN: mucolipidosis III. * * * poly·dys·tro·phy (pol″e disґtrə fe) dystrophy of several tissues or structures at the same time.… …   Medical dictionary

  • Mucolipidosis — Classification and external resources ICD 10 E77.0 E77.1 ICD 9 …   Wikipedia

  • I-Zell-Krankheit — Die I Zellkrankheit, auch als Mukolipidose II bezeichnet, ist eine sehr seltene autosomal rezessiv vererbte lysosomale Speicherkrankheit. Klassifikation nach ICD 10 …   Deutsch Wikipedia

  • Mukolipidose II — Die I Zellkrankheit, auch als Mukolipidose II bezeichnet, ist eine sehr seltene autosomal rezessiv vererbte lysosomale Speicherkrankheit. Klassifikation nach ICD 10 …   Deutsch Wikipedia

  • mucolipidosis — Any of a group of lysosomal storage diseases in which symptoms of visceral and mesenchymal mucopolysaccharide, glycoprotein, oligosaccharide, or glycolipid storage are present; clinically, they bear a superficial resemblance to the mu …   Medical dictionary

  • МУКОЛИПИДОЗЫ — мед. Муколипидоз общее название болезней накопления, обусловленных недостаточностью активности различных гидролаз (р). По клинической картине напоминают мукополисаха ридозы и проявления синдрома Хюрлер, в тканях происходит накопление… …   Справочник по болезням

  • I-Zellkrankheit — Die I Zellkrankheit, auch als Mukolipidose II bezeichnet, ist eine sehr seltene autosomal rezessiv vererbte lysosomale Speicherkrankheit. Klassifikation nach ICD 10 E77.0 …   Deutsch Wikipedia

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”