MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5 (MMDS5)

Question 1

What is  MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5 (MMDS5)?

Accepted Answer

very rare

autosomal recessive

mutation in the ISCA1 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 617613

Question 3

Which enzymes are involved?

Accepted Answer

Iron-sulfur cluster assembly 1 homolog, mitochondrial

Disease	MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5 (MMDS5)
OMIM	617613 OMIM = Online Mendelian Inheritance of Men
Protein (UniProt)	Iron-sulfur cluster assembly 1 homolog, mitochondrial
Gene locus	9q21.33
ICD
Summary	very rare autosomal recessive mutation in the ISCA1 gene
Laboratory findings	Creatine kinase normal/inc (serum) L-Lactic acid inc (serum)
Symptoms	developmental delay feeding difficulties, poor feeding growth retardation, poor growth hyperreflexia hypertonia, spasticity leukodystrophy microcephaly (<2 SD for age) myelination, incomplete, hypomyelination onset, infancy psychomotor retardation retinopathy seizures