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Summary
MUCOPOLYSACCHARIDOSIS IV MORQUIO A SYNDROME
MPS4A
253000
OMIM = Online Medalian Inheritance of Men
309297
16q24.3

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
  • no specific treatment
  • supportive/symptomatic therapy
rare (1:300000)
autosomal recessive
Type A: severe form
Type B: milder form
symptoms
coarse facial features
corneal clouding
corneal deposits
dental caries
dwarfism
dysostosis multiplex
growth retardation
hearing defect, deafness
hepatomegaly (large liver)
hydrops fetalis
hypoplastic enamel (thin)
infections (severe or recurrent)
inguinal hernia
liver involvement or dysfunction
myopathy
normal at birth
onset, childhood
osteoporosis
prominent lower face
restrictive lung disease
short neck
short stature
short trunk
skeletal changes, skeletal abnormalities
skoliosis, kyphoskoliosis
Teeth: generalized defect or abnormalities
valvular heart disease
vertebral changes
X-ray, abnormalities
laboratory finding
Keratan sulfate0.000.00 normal-increasedurineno data
Chondroitin-6-sulfate0.000.00 normal-increasedurineno data
N-Acetylgalactosamin-6-sulfate sulfatase decreased activityfibroblasts
Mucopolysaccharides0.000.00 increasedurineno data
Glycosaminoglycans, total normal-increasedurine
Literature
Wortmann S,et al.Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation.Mol Genet Metab88147-522006
Ojala T,et al.New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomaliesPediatr Res724432-4372012
Steen Cet al.Cobalamin E (cblE) disease a severe neurological disorder with megaloblastic anaemia, homocystinuria and low serum methionineJ Inherit Metab Dis200705-7061997
al-Essa MARashed MS, Ozand PTTyrosinaemia type II: an easily diagnosed metabolic disorder with a rewarding therapeutic responseEast Mediterr Health J561204-12071999
Saunders C.et al.CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduriaAm J Hum Genet962258-2652015
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Wortmann SB,et al.Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafnessNat Genet447797-8022012
Brassier A,et al.Two new cases of serine deficiency disorders treated with l-serineEur J Paediatr Neurol20153-602016
Cormier-Daire Vet al.Neonatal and delayed-onset liver involvement in disorders of oxidative phosphorylationJ Pediatr1305817-8221997
Mercier JCet al.Hereditary fructose intolerance with early onsetArch Fr Pediatr3310945-9531976
Karkucinska-Wieckowska A,et al.Increased reactive oxygen species (ROS) production and low catalase level in fibroblasts of a girl with MEGDEL association (Leigh syndrome, deafness, 3-methylglutaconic aciduria).Folia Neuropathol49156-632011
Wortmann SB,et al.CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.Am J Hum Genet962245-2572015