MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT; MTDPS12A

Question 1

What is  MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT; MTDPS12A?

Accepted Answer

rare

autosomal dominant

mutation in the SLC25A4 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Mitochondriales DNA-Depletionssyndrom 12A; MTDPS12A

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 617184

Question 4

Which enzymes are involved?

Accepted Answer

ADP/ATP translocase 1

Disease	MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT; MTDPS12A
OMIM	617184 OMIM = Online Mendelian Inheritance of Men
Protein (UniProt)	ADP/ATP translocase 1
Gene locus	4q35.1
ICD
Summary	rare autosomal dominant mutation in the SLC25A4 gene
Laboratory findings	L-Lactic acid inc (cerebrospinal fluid) L-Lactic acid inc (blood)
Symptoms	cardiomyopathy cardiomyopathy, hypertrophic defect of walking, running, rising or climbing early death feeding difficulties, poor feeding hyporeflexia hypotonia lactic acidosis muscle weakness onset, neonatal respiratory insufficiency