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Summary
MUCOPOLYSACCHARIDOSIS VII SLY SYNDROME
MPS7
253220
OMIM = Online Medalian Inheritance of Men
584
7q11.21
  • no specific treatment
  • supportive/symptomatic therapy
very rare
autosomal recessive
2 types: a severe neonatal form may be present in utero and at birth (hydrops fetalis)
symptoms
coarse facial features
contractures, joints
corneal clouding
corneal deposits
dysostosis multiplex
hearing defect, deafness
hepatomegaly (large liver)
hirsutism
hydrocephalus
hydrops fetalis
hypertrichosis
infections (severe or recurrent)
inguinal hernia
macrocephaly (large calvaria, >2 SD for age)
mental retardation
onset, childhood
onset, fetus
prominent abdomen
short stature
splenomegaly (large spleen)
umbilical hernia
valvular heart disease
laboratory finding
Chondroitin 4/6 sulfate0.000.00 increasedurineno data
beta-Glucuronidase 100.00decreased activityfibroblasts
Chondroitin sulfate, mixed isomers
Mucopolysaccharides0.000.00 increasedurineno data
Granulocytes, metachromatic
Chondroitin-4-sulfate0.000.00 increasedurineno data
Dermatan sulfate increasedurine
Heparan sulfate increasedurine
Glycosaminoglycans, total increasedurine
Literature
Santorelli FMet al.Heterogeneous clinical presentation of the mtDNA NARP/T8993G mutationNeurology490270-2731997
Burnett JR,Hooper AJVitamin E and oxidative stress in abetalipoproteinemia and familial hypobetalipoproteinemia.Free Radic Biol Med88059-622015
Makela-Bengs Pet al.Correlation between the clinical symptoms and the proportion of mitochondrial DNA carrying the 8993 point mutation in the NARP syndromePediatr Res370634-6391995
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
G+-ªth L,Nagy TInherited catalase deficiency: is it benign or a factor in various age related disorders?Mutat Res7532147-1542013
Rabier Det al.Persistent hypocitrullinaemia as a marker for mtDNA NARP T 8993 G mutation?J Inherit Metab Dis210216-2191998
Sembrano Eet al.Polysomnographic findings in a patient with the mitochondrial encephalomyopathy NARPNeurology4901714-17171997
Parfait Bet al.The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemiaEur J Pediatr158155-581999
Walsh MT,et al.Novel Abetalipoproteinemia Missense Mutation Highlights the Importance of the N-Terminal +-ª-Barrel in Microsomal Triglyceride Transfer Protein Function.Circ Cardiovasc Genet85677-6872015