MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA (MMDS2)

Question 1

What is  MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA (MMDS2)?

Accepted Answer

very rare

autosomal recessive

mutation in the BOLA3 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 614299

Question 3

Which enzymes are involved?

Accepted Answer

BolA-like protein 3

Disease	MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA (MMDS2)
OMIM	614299 OMIM = Online Mendelian Inheritance of Men
Orphanet	401874
Protein (UniProt)	BolA-like protein 3
Gene locus	2p13.1
ICD	E88.8
Summary	very rare autosomal recessive mutation in the BOLA3 gene
Laboratory findings	2-Hydroxybutyric acid inc (urine) Glycine inc (plasma) L-Isoleucine inc (plasma) L-Lactic acid inc (serum) Leucine inc (plasma) Valine inc (plasma)
Symptoms	abnormal movement ataxia blindness, visual loss, visual impairment cardiomyopathy cardiomyopathy, dilated cardiomyopathy, hypertrophic developmental delay early death encephalopathy epilepsy extrapyramidal signs hepatomegaly (large liver) hypotonia lactic acidosis lethargy, drowsiness, apathy leukodystrophy onset, infancy optic atrophy respiratory insufficiency seizures vomiting