LETHAL INFANTILE MITOCHONDRIAL DISEASE (LIMM)

Question 1

What is  LETHAL INFANTILE MITOCHONDRIAL DISEASE (LIMM)?

Accepted Answer

rare
mitochondrial
Disorder of nuclear OXPHOS genes Complex I, III, IV Complex IV and cytochrome aa3 Complex IV and cytochrome aa3 and cytochrome b

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Letale mitochondriale Myopathie des Kindes; LIMM; LIMD

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 551000

Question 4

Which enzymes are involved?

Accepted Answer

tissue specific depletions of mtDNA (some cases)

Disease	LETHAL INFANTILE MITOCHONDRIAL DISEASE (LIMM)
OMIM	551000 OMIM = Online Mendelian Inheritance of Men
Orphanet	254857
Gene locus
ICD	G71.3
Summary	rare mitochondrial Disorder of nuclear OXPHOS genes Complex I, III, IV Complex IV and cytochrome aa3 Complex IV and cytochrome aa3 and cytochrome b
Laboratory findings	L-Lactic acid inc (blood)
Symptoms	Amino acids, urine cardiomyopathy early death failure to thrive hypotonia lactic acidosis liver involvement or dysfunction MRI, brain, abnormalities [-] muscle weakness myopathy onset, neonatal ophthalmoplegia