OMIM = Online Medalian Inheritance of Men

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
  • bone marrow transplantation
  • hemopoietic stem cell transplantation
rare (1:100000, 1:70000 Israel)
X-linked recessive
2 types:
- type A (severe)
- type B (mild)
behavior, hyperactive, restless
carpal tunnel syndrome
coarse facial features
contractures, joints
coronary heart disease
dysostosis multiplex
early death
growth retardation, poor growth
hearing defect, deafness
hepatomegaly (large liver)
infections (respiratory tract/system)
infections (severe or recurrent)
inguinal hernia
joint stiffness
macrocephaly (large calvaria, >2 SD for age)
macroglossia, large/protuding tongue
mental retardation
mongolian spots
neurological deterioration
obstructive airway disease
onset, childhood
restrictive lung disease
retinal or macular degeneration
short stature
skin, abnormal
skin, thickened
splenomegaly (large spleen)
thick or large lips
umbilical hernia
valvular heart disease
X-ray, abnormalities
laboratory finding
Dermatan sulfate0.000.00 increasedurine
Heparan sulfate0.000.00 increasedurine
Iduronide-2-sulfate sulfatase activityfibroblasts
Mucopolysaccharides0.000.00 increasedurine
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Sarig O,et al.Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome) caused by novel mutations in SERAC1.Am J Med Genet A16192204-22152013
Jia F,et al.Bench to bedside review: Possible role of vitamin D in autism spectrum disorderPsychiatry Res2600360-3652017
Khramova TV,et al.Serologic Markers of Autism Spectrum DisorderJ Mol Neurosci623420-4292017
Koene S,et al.Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 casesJ Inherit Metab Dis355737-7472012
Holme ELindstedt S Diagnosis and management of tyrosinemia type ICurr Opin Pediatr76726-7321995
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Kobayashi Ket al.A search for the primary abnormality in adult-onset type II citrullinemiaAm J Hum Genet5351024-10301993
Schuelke Met al.Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsyNat Genet213260-2311999
Stojanovic V,Doronjski AMild form of 3-methylglutaconic aciduria type IV and mutation in the TMEM70 genesJ Pediatr Endocrinol Metab261151-1542013
Guenduez M,et al.Clinical findings and effect of sodium hydrogen carbonate in patients with glutathione synthetase deficiencyJ Pediatr Endocrinol Metab294481-4852016
Dweikat IM,et al.MEGDEL Syndrome in a Child From Palestine: Report of a Novel Mutation in SERAC1 GeneJ Child Neurol3081053-10562015
Brassier A,et al.Two new cases of serine deficiency disorders treated with l-serineEur J Paediatr Neurol20153-602016
Croffie JMGupta SK, Chong SK, Fitzgerald JF Tyrosinemia type 1 should be suspected in infants with severe coagulopathy even in the absence of other signs of liver failurePediatrics1033675-6781999
Cerone RHolme E, Schiaffino MC, Caruso U, Maritano L, Romano CTyrosinemia type III: diagnosis and ten-year follow-upActa Paediatr8691013-10151997
Wortmann SB,et al.Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndromeNeuropediatrics46298-1032015