3-HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE DEFICIENCY (HMGCS2D)

Q: What is 3-HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE DEFICIENCY (HMGCS2D)?

very rare (<1:1000000, ~30 cases) autosomal recessive mutation in the HMGCS2 gene Hereditary deficiency of mitochondrial HMG-CoA synthase .. is a poorly defined, treatable, probably underdiagnosed condition that can cause episodes of severe hypoketotic hypoglycemia [Bouchard et al. 2001]

Q: Gibt es eine deutsche Bezeichnung?

Mangel an 3-Hydroxy-3-Methylglutaryl-CoA-Synthase

Q: Which enzymes are involved?

3-hydroxy-3-methylglutaryl-CoA synthase, mitochondrial

Question 1

What is  3-HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE DEFICIENCY (HMGCS2D)?

Accepted Answer

very rare (<1:1000000, ~30 cases)
autosomal recessive
mutation in the HMGCS2 gene
Hereditary deficiency of mitochondrial HMG-CoA synthase .. is a poorly defined, treatable, probably underdiagnosed condition that can cause episodes of severe hypoketotic hypoglycemia [Bouchard et al. 2001]

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Mangel an 3-Hydroxy-3-Methylglutaryl-CoA-Synthase

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 605911

Question 4

Which enzymes are involved?

Accepted Answer

3-hydroxy-3-methylglutaryl-CoA synthase, mitochondrial

Disease	3-HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE DEFICIENCY (HMGCS2D)
Synonym	HMCS2; MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY
OMIM	605911 OMIM = Online Mendelian Inheritance of Men
Orphanet	35701
Protein (UniProt)	3-hydroxy-3-methylglutaryl-CoA synthase, mitochondrial
ExPASy	2.3.3.10
Gene locus	1p12
ICD	E71.3
Summary	very rare (<1:1000000, ~30 cases) autosomal recessive mutation in the HMGCS2 gene Hereditary deficiency of mitochondrial HMG-CoA synthase .. is a poorly defined, treatable, probably underdiagnosed condition that can cause episodes of severe hypoketotic hypoglycemia [Bouchard et al. 2001]
Laboratory findings	3-Hydroxybutyric acid inc (urine) 3-Hydroxyisovaleric acid n/i (urine) 4-hydroxy-6-methyl-2-pyrone inc (urine) Acetoacetic acid inc (urine) Adipic acid inc (urine) Adipic acid/3-Hydroxybutyric acid inc (urine) D-Glucose normal/dec (blood) Dicarboxylic acids inc (urine) Free fatty acids normal/inc (serum) Glutaric acid inc (urine) Glycerol inc (urine) Ketone bodies (urine) normal/dec (urine) Transaminases (ASAT/ALAT) inc (serum) Triglycerides normal/inc (serum)
Symptoms	coma diarrhea feeding difficulties, poor feeding hepatomegaly (large liver) hypoglycemia hypoketotic hypoglycemia lethargy, drowsiness, apathy metabolic acidosis onset, adulthood onset, childhood onset, infancy respiratory insufficiency vomiting