MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5; MC5DN5

Question 1

What is  MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5; MC5DN5?

Accepted Answer

rare

autosomal recessive

mutation in the ATP5F1D gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 618120

Question 3

Which enzymes are involved?

Accepted Answer

ATP synthase subunit delta, mitochondrial

Disease	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5; MC5DN5
Synonym	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATP5F1D TYPE
OMIM	618120 OMIM = Online Mendelian Inheritance of Men
Orphanet	254913
Protein (UniProt)	ATP synthase subunit delta, mitochondrial
Gene locus	19p13.3
ICD
Summary	rare autosomal recessive mutation in the ATP5F1D gene
Laboratory findings	3-Methylglutaconic acid inc (urine) 3-Methylglutaric acid inc (urine) Ammonia inc (blood) D-Glucose dec (blood) L-Lactic acid inc (blood)
Symptoms	cardiomyopathy encephalopathy hyperammonemia hypoglycemia lactic acidosis cardiomyopathy, dilated developmental delay exercise intolerance gait disturbance intrauterine growth retardation ketosis, ketoacidosis lethargy, drowsiness, apathy MRI, brain, abnormalities [-] muscle weakness onset, infancy onset, neonatal rhabdomyolysis seizures short stature speech development, delayed, abnormal