ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1 (EMPF1)

Question 1

What is  ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1 (EMPF1)?

Accepted Answer

rare

autosomal recessive

autosomal dominant

mutation in the DNM1L gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 614388

Question 3

Which enzymes are involved?

Accepted Answer

Dynamin-1-like protein

Disease	ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1 (EMPF1)
OMIM	614388 OMIM = Online Mendelian Inheritance of Men
Orphanet	330050
Protein (UniProt)	Dynamin-1-like protein
Gene locus	12p11.21
ICD	G31.8
Summary	rare autosomal recessive autosomal dominant mutation in the DNM1L gene
Laboratory findings	L-Lactic acid normal/inc (blood)
Symptoms	areflexia cardiac involvement, cardiac defects cardiomyopathy cerebral atrophy developmental delay dysarthria dysmorphism EEG abnormalities [-] encephalopathy failure to thrive feeding difficulties, poor feeding hypotonia lactic acidosis microcephaly (<2 SD for age) MRI, brain, abnormalities [-] nystagmus onset, childhood onset, infancy onset, neonatal psychomotor retardation pyramidal signs status epilepticus strabismus