MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4 (MMDS4)

Question 1

What is  MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4 (MMDS4)?

Accepted Answer

very rare

autosomal recessive

mutation in the ISCA2 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 616370

Question 3

Which enzymes are involved?

Accepted Answer

Iron-sulfur cluster assembly 2 homolog, mitochondrial

Disease	MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4 (MMDS4)
OMIM	616370 OMIM = Online Mendelian Inheritance of Men
Orphanet	457406
Protein (UniProt)	Iron-sulfur cluster assembly 2 homolog, mitochondrial
Gene locus	14q24.3
ICD	E88.8
Summary	very rare autosomal recessive mutation in the ISCA2 gene
Laboratory findings	Glutamate inc (cerebrospinal fluid) Glycine inc (cerebrospinal fluid) Glycine normal/inc (plasma) L-Lactic acid inc (cerebrospinal fluid)
Symptoms	blindness, visual loss, visual impairment early death hyperreflexia hypertonia, spasticity hypotonia leukodystrophy MRI, brain, abnormalities [-] nystagmus onset, infancy periventricular white matter changes speech development, delayed, abnormal