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Summary
MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (MNGIE)
MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVE
612075
OMIM = Online Medalian Inheritance of Men
255235
8q22.3
rare
autosomal recessive
mutation in the RRM2B gene
symptoms
abdominal esophageal perforation
Amino acids, urine
cachexia
early death
eye movements, abnormal
failure to thrive
feeding difficulties, poor feeding
gastrointestinal dysmotility
hypotonia
infections (local, abscesses)
lactic acidosis
mental retardation
onset, infancy
ophthalmoplegia
progressive neurologic defect
renal dysfunction, renal defects
seizures
tubulopathy
weight loss
laboratory finding
L-Lactic acid0.000.00 increasedplasmainfancy
Literature
Yogalingam GHopwood JJMolecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implicationsHum Mutat184264-2812001
Yogalingam GHopwood JJMolecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implicationsHum Mutat184264-2812001
Snow TMMongolian spots in the newborn: do they mean anything?Neonatal Netw24131-332005
Hopwood JJPrenatal diagnosis of Sanfilippo syndromePrenat Diagn252148-1502005
Ochiai Tet al.Significance of extensive Mongolian spots in Hunters syndromeBr J Dermatol14861173-11782003
Ochiai Tet al.Ultrastructural findings of cutaneous nerves in patients with Hunters syndrome following hematopoietic stem cell transplantMed Mol Morphol382118-1222005
Bekri Set al.Early diagnosis of mucopolysaccharidosis III A with a nonsense mutation and two de novo missense mutations in SGSH geneJ Inherit Metab Dis284601-6022005