GLYCOGEN STORAGE DISEASE TYPE 0a

Question 1

What is  GLYCOGEN STORAGE DISEASE TYPE 0a?

Accepted Answer

very rare
autosomal recessive
mutation in the GYS2 gene
diagnosis: liver biopsy

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

GSD [Glykogenspeicherkrankheit] Typ 0a; Glykogenspeicherkrankheit durch hepatischen Glykogensynthase-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 240600

Question 4

Which enzymes are involved?

Accepted Answer

Glycogen [starch] synthase, liver

Disease	GLYCOGEN STORAGE DISEASE TYPE 0a
Synonym	GSD0a; HYPOGLYCEMIA WITH DEFICIENCY OF GLYCOGEN-SYNTHETASE IN LIVER
OMIM	240600 OMIM = Online Mendelian Inheritance of Men
Orphanet	2089
Protein (UniProt)	Glycogen [starch] synthase, liver
ExPASy	2.4.1.11
Gene locus	12p12.1
ICD	E74.0
Summary	very rare autosomal recessive mutation in the GYS2 gene diagnosis: liver biopsy
Laboratory findings	D-Glucose dec (serum) Glycogen normal/dec (liver) Glycogen synthase dec (liver) Ketone bodies (urine) inc (blood) Ketone bodies (urine) inc (urine) L-Lactic acid inc (blood)
Symptoms	growth retardation, poor growth hypoglycemia ketosis, ketoacidosis lethargy, drowsiness, apathy mental retardation microcephaly (<2 SD for age) onset, infancy onset, neonatal seizures small for gestational age (SGA), intrauterine growth retardation (IUGR) sweating