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Summary
MUCOLIPIDOSIS III
PSEUDO-HURLER POLYDYSTROPHIA
252600
OMIM = Online Medalian Inheritance of Men
577
12q23.2
  • no specific treatment
  • supportive/symptomatic therapy
rare
autosomal recessive
symptoms
acne
aortic valvular disease
behavior, self-mutilating or destructive
cardiomyopathy
carpal tunnel syndrome
coarse facial features
contractures, joints
corneal clouding
corneal deposits
dwarfism
dysostosis multiplex
hearing defect, deafness
hip dysplasia
hypertrichosis
joint stiffness
macroglossia, large/protuding tongue
mental retardation
neuropathy
onset, child
retinopathy
short stature
skeletal changes
skin, thickened
valvular heart disease
X-ray, abnormalities
laboratory finding
UDP-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine 100.00decreased activityfibroblasts
beta-Hexosaminidase increased ratioserum/fibroblasts
Iduronate sulfatase increased ratioserum/fibroblasts
Arylsulfatase A increased ratioserum/fibroblasts
Literature
Vassault ABonnefort JP, Specola N, Saudubray LMLactate, Pyruvate, and Ketone BodiesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00285-3081991
Vassault ABonnefort JP, Specola N, Saudubray LMLactate, Pyruvate, and Ketone BodiesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00285-3081991
Vassault ABonnefort JP, Specola N, Saudubray LMLactate, Pyruvate, and Ketone BodiesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00285-3081991
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Vassault ABonnefort JP, Specola N, Saudubray LMLactate, Pyruvate, and Ketone BodiesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00285-3081991
Chace DHet al.Rapid diagnosis of MCAD deficiency: quantitatively analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometryClin Chem4302106-21131997
Abdenur JEet al.Diagnosis of isovaleric acidaemia by tandem mass spectrometry: false positive result due to pivaloylcarnitine in a newborn screening programmeJ Inherit Metab Dis210624-6301998
Abdenur JEet al.MCAD deficiency. Acylcarnitines (AC) by tandem mass spectrometry (MS-MS) are useful to monitor dietary treatmentAdv Exp Med Biol4660353-3631999
Vassault ABonnefort JP, Specola N, Saudubray LMLactate, Pyruvate, and Ketone BodiesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00285-3081991
Vassault ABonnefort JP, Specola N, Saudubray LMLactate, Pyruvate, and Ketone BodiesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00285-3081991