MEDIUM CHAIN 3-KETOACYL-CoA THIOLASE DEFICIENCY ?

Question 1

What is  MEDIUM CHAIN 3-KETOACYL-CoA THIOLASE DEFICIENCY ??

Accepted Answer

IEM ?

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 602199

Question 3

Which enzymes are involved?

Accepted Answer

medium chain 3-ketoacyl-CoA thiolase

Disease	MEDIUM CHAIN 3-KETOACYL-CoA THIOLASE DEFICIENCY ?
OMIM	602199 OMIM = Online Mendelian Inheritance of Men
Orphanet	---
ExPASy	2.3.1.16
Gene locus	---
ICD	---
Summary	IEM ?
Laboratory findings	3-Hydroxybutyric acid inc (urine) L-Lactic acid inc (urine)
Symptoms	dehydration early death liver involvement or dysfunction metabolic acidosis onset, neonatal rhabdomyolysis vomiting