SUDDEN CARDIAC FAILURE, INFANTILE (SCFI)

Question 1

What is  SUDDEN CARDIAC FAILURE, INFANTILE (SCFI)?

Accepted Answer

very rare

autosomal recessive

mutation in the PPA2 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 617222

Question 3

Which enzymes are involved?

Accepted Answer

Inorganic pyrophosphatase 2, mitochondrial

Disease	SUDDEN CARDIAC FAILURE, INFANTILE (SCFI)
OMIM	617222 OMIM = Online Mendelian Inheritance of Men
Protein (UniProt)	Inorganic pyrophosphatase 2, mitochondrial
ExPASy	3.6.1.1
Gene locus	4q24
ICD
Summary	very rare autosomal recessive mutation in the PPA2 gene
Laboratory findings	L-Lactic acid normal/inc (serum)
Symptoms	bradycardia cardiomyopathy cardiomyopathy, hypertrophic heart failure, cardiac failure hypotonia lactic acidosis metabolic acidosis myocarditis onset, childhood onset, infancy seizures