MITOCHONDRIAL DNA DEPLETION SYNDROME 16 (HEPATIC TYPE) (MTDPS16)

Question 1

What is  MITOCHONDRIAL DNA DEPLETION SYNDROME 16 (HEPATIC TYPE) (MTDPS16)?

Accepted Answer

very rare

autosomal recessive

mutation in the POLG2 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 618528

Disease	MITOCHONDRIAL DNA DEPLETION SYNDROME 16 (HEPATIC TYPE) (MTDPS16)
OMIM	618528 OMIM = Online Mendelian Inheritance of Men
Gene locus	17q23.3
ICD
Summary	very rare autosomal recessive mutation in the POLG2 gene
Laboratory findings	Albumin dec (serum) Bilirubin inc (serum) L-Lactic acid inc (blood)
Symptoms	cholestasis Coagulopathy/Coagulation factors early death feeding difficulties, poor feeding hepatomegaly (large liver) jaundice lactic acidosis liver failure liver involvement or dysfunction metabolic acidosis onset, infancy onset, neonatal