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Summary
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 MC5DN5
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATP5F1D TYPE
618120
OMIM = Online Medalian Inheritance of Men
254913
19p13.3
rare
autosomal recessive
mutation in the ATP5F1D gene
symptoms
cardiomyopathy
cardiomyopathy, dilated
developmental delay
encephalopathy
exercise intolerance
gait disturbance
hyperammonemia
hypoglycemia
ketosis, ketoacidosis
lactic acidosis
lethargy, drowsiness, malaise or sleep disorder
muscle weakness
onset, infancy
onset, neonatal
rhabdomyolysis
seizures
short stature
speech development, delayed, abnormal
laboratory finding
3-Methylglutaconic acid50.00200.00 mmol/mol Creaurine
D-Glucose1.002.00 mmol/lblood
Ammonia260.00360.00 +€mol/lblood
L-Lactic acid2.005.00 mmol/lblood
3-Methylglutaric acid mmol/mol creatinineurine
MRI, brain, abnormalities -
Literature
Mole SE,Williams RENeuronal Ceroid-LipofuscinosesSource GeneReviews-« Internet002013