MITOCHONDRIAL DNA DEPLETION SYNDROME 18 (MTDPS18)

Question 1

What is  MITOCHONDRIAL DNA DEPLETION SYNDROME 18 (MTDPS18)?

Accepted Answer

very rare

auitosomal recessive

mutation in the SLC25A21 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 618811

Question 3

Which enzymes are involved?

Accepted Answer

Mitochondrial oxodicarboxylate carrier deficiency

Disease	MITOCHONDRIAL DNA DEPLETION SYNDROME 18 (MTDPS18)
OMIM	618811 OMIM = Online Mendelian Inheritance of Men
Orphanet	---
Gene locus	14q13.3
ICD
Summary	very rare auitosomal recessive mutation in the SLC25A21 gene
Laboratory findings	2-Oxoadipic acid inc (urine) 3-Hydroxyisovaleric acid inc (urine) Glutaric acid inc (urine) L-Lactic acid inc (urine) Pipecolic acid inc (urine) Quinolinic acid inc (urine)
Symptoms	failure to thrive hyperreflexia hyporeflexia lactic acidosis muscle atrophy muscle weakness onset, childhood onset, infancy scoliosis skeletal changes, skeletal abnormalities