MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY

Question 1

What is  MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY?

Accepted Answer

rare
autosomal recessive
mutation in the SLC25A3 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Hypertrophe Kardiomyopathie - Muskelhypotonie - Laktatazidose

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 610773

Question 4

Which enzymes are involved?

Accepted Answer

Phosphate carrier protein, mitochondrial

Disease	MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY
Synonym	SLC25A3
OMIM	610773 OMIM = Online Mendelian Inheritance of Men
Orphanet	91130
Protein (UniProt)	Phosphate carrier protein, mitochondrial
Gene locus	12q23.1
ICD	G71.3
Summary	rare autosomal recessive mutation in the SLC25A3 gene
Laboratory findings	L-Lactic acid inc (urine) Lactate/Pyruvate ratio inc (urine) L-Lactic acid inc (plasma) Lactate/Pyruvate ratio inc (plasma)
Symptoms	cardiomyopathy cardiomyopathy, hypertrophic early death exercise intolerance failure to thrive heart failure, cardiac failure hypotonia lactic acidosis metabolic acidosis muscle weakness myopathy onset, neonatal respiratory insufficiency