SENGERS SYNDROME

Question 1

What is  SENGERS SYNDROME?

Accepted Answer

rare (30 cases)
autosomal recessive
mutation in the AGK gene
2 types:
- severe neonatal form, early death
- later onset milder form

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Sengers-Syndrom; Kongenitale Katarakt-hypertrophe Kardiomyopathie-mitochondriale Myopathie-Syndrom

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 212350

Question 4

Which enzymes are involved?

Accepted Answer

Acylglycerol kinase, mitochondrial

Disease	SENGERS SYNDROME
Synonym	CATARACT AND CARDIOMYOPATHY
OMIM	212350 OMIM = Online Mendelian Inheritance of Men
Orphanet	1369
Protein (UniProt)	Acylglycerol kinase, mitochondrial
ExPASy	2.7.1.94
Gene locus	7q34
ICD	Q87.8
Summary	rare (30 cases) autosomal recessive mutation in the AGK gene 2 types: - severe neonatal form, early death - later onset milder form
Laboratory findings	L-Lactic acid normal/inc (plasma) 3-Methylglutaconic acid normal/inc (urine) Lactate/Pyruvate ratio inc (blood) Transaminases (ASAT/ALAT) normal/inc (serum)
Symptoms	lactic acidosis cardiomyopathy cardiomyopathy, hypertrophic cataract early death encephalopathy exercise intolerance glaucoma growth retardation, poor growth hypotonia intellectual disability/intellectual developmental disorder liver involvement or dysfunction motor retardation muscle weakness myopathy myopia nystagmus onset, infancy onset, neonatal respiratory insufficiency strabismus thrombopenia, thrombocytopenia