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Summary
MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE MTDPS12B
615418
OMIM = Online Medalian Inheritance of Men
1369
4q35.1
rare
autosoma recessive
mutation in the SLC25A4 gene
symptoms
cardiomyopathy
cardiomyopathy, hypertrophic
cataract
exercise intolerance
lactic acidosis
muscle atrophy
muscle weakness
obesity
onset, childhood
pain, muscle
laboratory finding
L-Lactic acid mmol/lblood
Literature
Shimada T,et al.Di-sulfated Keratan Sulfate as a Novel Biomarker for Mucopolysaccharidosis II, IVA, and IVBJIMD Rep2101-132015
Harmatz P1,Shediac RMucopolysaccharidosis VI: pathophysiology, diagnosis and treatmentFront Biosci (Landmark Ed)220385-4062017
Shimada T,et al.Di-sulfated Keratan Sulfate as a Novel Biomarker for Mucopolysaccharidosis II, IVA, and IVBJIMD Rep2101-132015
Brunetti-Pierri N,etal.Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturaseAm J Hum Genet714952-9582002
Behfar M,et al.Non-sibling hematopoietic stem cell transplantation using myeloablative conditioning regimen in children with Maroteaux-Lamy syndrome: A brief reportPediatr Transplant2152017
Oussoren E,et al.A long term follow-up study of the development of hip disease in Mucopolysaccharidosis type VIMol Genet Metab1213241-2512017
de Koning TJAmino acid synthesis deficienciesJ Inherit Metab Dis404609-6202017