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Summary
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA (MMDS2)
614299
OMIM = Online Medalian Inheritance of Men
401874
2p13.1
very rare
autosomal recessive
mutation in the BOLA3 gene
symptoms
abnormal movement
ataxia
blindness, visual loss, visual impairment
cardiomyopathy
cardiomyopathy, dilated
cardiomyopathy, hypertrophic
developmental delay
early death
encephalopathy
epilepsy
extrapyramidal signs
hepatomegaly (large liver)
hypotonia
lactic acidosis
lethargy, drowsiness, malaise or sleep disorder
leukodystrophy
onset, infancy
optic atrophy
respiratory insufficiency
seizures
vomiting
laboratory finding
L-Lactic acid mmol/lserum
2-Hydroxybutyric acid mmol/mol creatinineurine
Glycine +€mol/lplasma
Leucine +€mol/lplasma
L-Isoleucine +€mol/lplasma
Valine +€mol/lplasma
Literature
Jacquemin EProgressive familial intrahepatic cholestasisClin Res Hepatol Gastroenterol Suppl361S26-352012
Jacquemin EProgressive familial intrahepatic cholestasisClin Res Hepatol Gastroenterol Suppl361S26-352012
Fischler B,Lamireau TCholestasis in the newborn and infantClin Res Hepatol Gastroenterol383263-2672014
Srivastava AProgressive familial intrahepatic cholestasisJ Clin Exp Hepatol4125-362014