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Summary
IMMUNODEFICIENCY 23 (CDG)
PDM3-CDG IMMUNODEFICIENCY WITH HYPER IgE AND COGNITIVE IMPAIRMENT
615816
OMIM = Online Medalian Inheritance of Men
443811
6q14.1
rare
autosomal recessive
symptoms
anemia
ataxia
bronchiectasia
dermatitis
dysarthria
erythema multiforme
hearing defect, deafness
hypotonia
infections (severe or recurrent)
myoclonus
neutropenia (decreased neutrophils)
onset, childhood
peripheral vascular disease
renal failure, acute/chronic
skeletal changes, skeletal abnormalities
skin defects
laboratory finding
Leucocytes decreasedblood
Immunglobulin IgD normal-increasedplasma
Literature
Yang Yet al.Spinal cord demyelination associated with biotinidase deficiency in 3 Chinese patientsJ Child Neurol222156-1602007
Desai SGanesan K, Hegde ABiotinidase deficiency: a reversible metabolic encephalopathy. Neuroimaging and MR spectroscopic findings in a series of four patientsPediatr Radiol388848-8562008
Sivri HSet al.Hearing loss in biotinidase deficiency: genotype-phenotype correlationJ Pediatr1504439-4422007
Park SYet al.Reabsorption of neutral amino acids mediated by amino acid transporter LAT2 and TAT1 in the basolateral membrane of proximal tubuleArch Pharm Res284421-4322005
Welling DBLong-term follow-up of hearing loss in biotinidase deficiencyJ Child Neurol22810552007
Baykal Tet al.Asymptomatic adults and older siblings with biotinidase deficiency ascertained by family studies of index casesJ Inherit Metab Dis286903-9122006
Chedrawi AKet al.Profound biotinidase deficiency in a child with predominantly spinal cord diseaseJ Child Neurol2391043-10482008