OMIM = Online Medalian Inheritance of Men

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
chest deformity
coarse facial features
corneal clouding
corneal deposits
dental caries
dysostosis multiplex
genu valgum
growth retardation, poor growth
hearing defect, deafness
hepatomegaly (large liver)
hydrops fetalis
hypoplastic enamel (thin)
infections (severe or recurrent)
inguinal hernia
joint hypermobilty, dislocations
liver involvement or dysfunction
normal at birth
onset, childhood
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
voice alterations
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
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Brassier A,et al.Two new cases of serine deficiency disorders treated with l-serineEur J Paediatr Neurol20153-602016
Kabunga P,et al.Systematic review of cardiac electrical disease in Kearns-Sayre syndrome and mitochondrial cytopathyInt J Cardiol1810303-3102015
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