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Summary
MUCOLIPIDOSIS II
I CELL DISEASE
252500
OMIM = Online Medalian Inheritance of Men
576
12q23.2
  • bone marrow transplantation
rare
autosomal recessive
relatively common disorder in Japan
symptoms
cardiomegaly
cardiomyopathy
coarse facial features
constipation
contractures, joints
corneal clouding
corneal deposits
cortical or cerebral atrophy
diarrhea
dwarfism
dysmorphism
early death
failure to thrive
gingiva, hyperplastic
hearing defect, deafness
hemangioma
hepatomegaly (large liver)
hernia
hip dysplasia
hydrops fetalis
hypotonia
infections (severe or recurrent)
macroglossia, large/protuding tongue
mental retardation
motor retardation
onset, infancy
onset, neonatal
osteoporosis
psychomotor retardation
skin, thickened
skoliosis, kyphoskoliosis
small for gestational age (SGA), intrauterine growth retardation (IUGR)
splenomegaly (large spleen)
umbilical hernia
valvular heart disease
laboratory finding
beta-Hexosaminidase increased ratioserum/fibroblasts
Iduronate sulfatase increased ratioserum/fibroblasts
Arylsulfatase A increased ratioserum/fibroblasts
UDP-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine 100.00decreased activityfibroblasts
MRI, brain, abnormalities - --
Glycosaminoglycans, total increasedurine
Literature
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Soustek MS,et al.Endurance training ameliorates complex 3 deficiency in a mouse model of Barth syndromeJ Inherit Metab Dis385915-9222015
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Wortmann SB,et al.3-Methylglutaconic aciduria--lessons from 50 genes and 977 patientsJ Inherit Metab Dis366913-3212013
Dudek J,et al.Cardiac-specific succinate dehydrogenase deficiency in Barth syndromeEMBO Mol Med002015
Ilas JMuhl A, Stockler-Ipsiroglu S Guanidinoacetate methyltransferase (GAMT) deficiency: non-invasive enzymatic diagnosis of a newly recognized inborn error of metabolismClin Chim Acta2900179-1882000
Steen Cet al.Cobalamin E (cblE) disease a severe neurological disorder with megaloblastic anaemia, homocystinuria and low serum methionineJ Inherit Metab Dis200705-7061997
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
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