THYMIDYLATE KINASE DEFICIENCY (NEW DISEASE?)

Question 1

What is  THYMIDYLATE KINASE DEFICIENCY (NEW DISEASE?)?

Accepted Answer

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 188345

Question 3

Which enzymes are involved?

Accepted Answer

thymidylate kinase

Disease	THYMIDYLATE KINASE DEFICIENCY (NEW DISEASE?)
Synonym	DTYMK
OMIM	188345 OMIM = Online Mendelian Inheritance of Men
Orphanet	---
ExPASy	---
Gene locus	2q37.3
ICD	---
Summary	very rare
Laboratory findings
Symptoms	growth retardation, poor growth microcephaly (<2 SD for age) MRI, brain, white matter abnormalities [-] onset, infancy white matter changes, abnormalities