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Summary
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29 (MC1DN29)
TMEM126B
618250
OMIM = Online Medalian Inheritance of Men
2609
11q14.1
very rare
autosomal recessive
mutation in the TMEM126B gene
symptoms
cardiomyopathy
cardiomyopathy, hypertrophic
congenital heart defect
defect of walking, running, rising or climbing
exercise intolerance
failure to thrive
growth retardation, poor growth
muscle weakness
onset, adolescent
onset, childhood
pain, muscle
renal failure, acute/chronic
laboratory finding
L-Lactic acid mmol/lserum
Alanine +€mol/lplasma
Literature
Zielonka M,et al.Severe Acute Subdural Hemorrhage in a Patient With Glutaric Aciduria Type I After Minor Head Trauma: A Case ReportJ Child Neurol3081065-10692015
Vester ME,et al.Occurrence of subdural hematomas in Dutch glutaric aciduria type 1 patientsEur J Pediatr17571001-10062016