MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (MMDS1)

Question 1

What is  MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (MMDS1)?

Accepted Answer

very rare

autosomal recessive

mutation in the NFU1 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 605711

Question 3

Which enzymes are involved?

Accepted Answer

NFU1 iron-sulfur cluster scaffold homolog, mitochondrial

Disease	MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (MMDS1)
OMIM	605711 OMIM = Online Mendelian Inheritance of Men
Orphanet	401869
Protein (UniProt)	NFU1 iron-sulfur cluster scaffold homolog, mitochondrial
Gene locus	2p13.3
ICD	E88.8
Summary	very rare autosomal recessive mutation in the NFU1 gene
Laboratory findings	2-Hydroxybutyric acid inc (urine) Glycine inc (plasma) L-Isoleucine inc (plasma) L-Lactic acid inc (serum) Lactate/Pyruvate ratio inc (serum) Leucine inc (plasma) Valine inc (plasma)
Symptoms	early death encephalopathy failure to thrive feeding difficulties, poor feeding lactic acidosis lethargy, drowsiness, apathy leukoencephalopathy MRI, brain, abnormalities [-] onset, infancy onset, neonatal psychomotor retardation pulmonary hypertension respiratory insufficiency white matter changes, abnormalities