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Summary
POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY (PGBM1)
POLYGLUCOSAN BODY MYOPATHY, EARLY-ONSET, WITH OR WITHOUT IMMUNODEFICIENCY PBMEI RBCK1
615895
OMIM = Online Medalian Inheritance of Men
329173
20q13
very rare
autosomal recessive
mutation in the RBCK1 gene
symptoms
cardiomyopathy
cardiomyopathy, dilated
failure to thrive
growth retardation, poor growth
hepatomegaly (large liver)
immunodeficiency
infections (severe or recurrent)
onset, infancy
onset, neonatal
pain, muscle
ptosis (drooping eyelid)
scoliosis
skin rash, eczematous or seborrhoic
laboratory finding
Transaminases U/lserum
Creatine kinase U/lserum
MRI, muscle, abnormalities -
Literature
Shih VEAmino acid analysisIn: Blau N, Duran M, Blaskovics ME, Gibson KM (eds) PhysicianÔÇÖs guide to the laboratory diagnosis of metabolic disease0011-262003
Han B,et al.Two novel mutations in the BCKDHB gene that cause maple syrup urine diseasePediatr Neonatol002018
Gupta D,et al.Identification of mutations, genotype-phenotype correlation and prenatal diagnosis of maple syrup urine disease in Indian patientsEur J Med Genet589471-4782015
Shih VEAmino acid analysisIn: Blau N, Duran M, Blaskovics ME, Gibson KM (eds) PhysicianÔÇÖs guide to the laboratory diagnosis of metabolic disease0011-262003