Mitochondrial Hepatopathies

Question 1

Mitochondrial dna depletion syndrome etiology?

Answer 1

tissue-specific reduction in mtDNA copy
number, leading to deficiencies in complexes I, III, and IV.

Question 2

Types of mds and genes involved?
Muscle-
Liver-
Liver,cns-

Answer 2

Muscle-gene thymidine kinase2
Liver-no gene
Liver,cns-m/c is DGUOK gene
Deoxy guanosine kinase .
Others are POLG,MPV 17,twinkle helicase gene,SUCLG1 gene.

Question 3

Muscle-gene ????????????
Liver-no gene
Liver,cns-m/c is DGUOK gene
Deoxy guanosine kinase .
Others are POLG,MPV 17,twinkle helicase gene,SUCLG1 gene.

Answer 3

Muscle-gene thymidine kinase2
Liver-no gene
Liver,cns-m/c is DGUOK gene
Deoxy guanosine kinase .
Others are POLG,MPV 17,twinkle helicase gene,SUCLG1 gene.

Question 4

Muscle-gene thymidine kinase2
Liver-no gene
Liver,cns-m/c is ??????????????
Deoxy guanosine kinase .
Others are POLG,MPV 17,twinkle helicase gene,SUCLG1 gene.

Answer 4

Muscle-gene thymidine kinase2
Liver-no gene
Liver,cns-m/c is DGUOK gene
Deoxy guanosine kinase .
Others are POLG,MPV 17,twinkle helicase gene,SUCLG1 gene.

Question 5

Hepatocerebral form presentation?
1st stage- liver failure,hypoglycemia and vomiting
2nd stage-neurological manifestation like cns,pns
Lab findings-
Lactic acidosis,hypoglycaemia,increased alpha fetoprotein levels.

What about iron ?

Answer 5

Iron overload occurs and iron accumulation in hepatocytes and kupfer cells.

Question 6

Presentation of mds?
Liver- failure to thrive ,hypoglycemia,vomiting
Cns:-????? ??????

Answer 6

Presentation of mds?
Liver- failure to thrive ,hypoglycemia,vomiting
Cns:-muscle weakness,hypotonia,seizures,microcephaly,developmental delay,cerebrovascular infarct.