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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
birthweight low (small for gestational age)
cardiomegaly
cardiomyopathy
coarse facial features
constipation
contractures, joints
corneal clouding
corneal deposits
diarrhea
dwarfism
dysmorphism
gingiva, hyperplastic
hearing defect, deafness
hemangioma
hepatomegaly (large liver)
hernia
hip dysplasia
hydrops fetalis
infections (severe or recurrent)
kyphoskoliosis
macroglossia, large/protuding tongue
mental retardation
motor retardation
onset, infant
onset, newborn
osteoporosis
skin, thickened
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
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
Ronge EKjellmann BLong term treatment with betaine in methylenetetrahydrofolate reductase deficiencyArch Dis Child740239-2411996
Mandel HEspeel M, Roels F, Sofer N, Luder A, Iancu TC, Aizin A, Berant M, Wanders RJA, Schutgens RBHA new type of peroxysomal disorder with variable expression in liver and fibroblastsJ Pediatr1254549-5551994
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
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