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Summary
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 (MC1DN11)
NDUFAF1
618234
OMIM = Online Medalian Inheritance of Men
2609
15q15.1
very rare
autosomal recessive
mutation in the NDUFAF1 gene
symptoms
blindness, visual loss, visual impairment
cardiomyopathy
cardiomyopathy, hypertrophic
developmental delay
encephalopathy
failure to thrive
heart failure, cardiac failure
hepatomegaly (large liver)
intellectual disability/intellectual developmental disorder (ID/ IDD)
lactic acidosis
leukodystrophy
myopathy
onset, infancy
osteoporosis
retinopathy
skoliosis, kyphoskoliosis
laboratory finding
L-Lactic acid mmol/lserum
Literature
Khushdil A,Murtaza FA Case Of 13-Year-Old Girl With Prolidase DeficiencyJ Ayub Med Coll Abbottabad292355-3572017
Koechel AFink C1, Schaekel KProlidase deficiency in two sisters with recurrent ulcerations of the lower extremitiesJ Dtsch Dermatol Ges15111142-11432017
Namiduru ESProlidaseBratisl Lek Listy1178480-4852016