GLYCOGEN STORAGE DISEASE TYPE VI. HERS DISEASE

Question 1

What is  GLYCOGEN STORAGE DISEASE TYPE VI. HERS DISEASE?

Accepted Answer

rare (1:1000.000)
autosomal recessive
mutation in the PYGL gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

GSD [Glykogenspeicherkrankheit] Typ 6; Glykogen-Phosphorylase-Mangel der Leber; Hers-Krankheit

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 232700

Question 4

Which enzymes are involved?

Accepted Answer

Glycogen phosphorylase, liver form

Disease	GLYCOGEN STORAGE DISEASE TYPE VI. HERS DISEASE
Synonym	GSD6; GLYCOGEN STORAGE DISEASE VI;
OMIM	232700 OMIM = Online Mendelian Inheritance of Men
Orphanet	369
Protein (UniProt)	Glycogen phosphorylase, liver form
ExPASy	2.4.1.1
Gene locus	14q22.1 Detail information to gene locus by the National Center for Biotechnology Information NCBI: Phosphorylase, glycogen, liver
ICD	E74.0
Summary	rare (1:1000.000) autosomal recessive mutation in the PYGL gene
Laboratory findings	Biotinidase normal/inc (plasma) Cholesterol n/i (plasma) D-Glucose normal/dec (serum) Ketone bodies (urine) inc (urine) L-Lactic acid normal/inc (blood) Liver phosphorylase dec (liver) Phosphorylase kinase dec (liver) Phosphorylase kinase dec (muscle) Transaminases (ASAT/ALAT) normal/inc (serum) Triglycerides inc (serum)
Symptoms	hepatomegaly (large liver) hypoglycemia short stature adiposity facies, cherubic (dolls face) obesity growth retardation, poor growth hypotonia ketosis, ketoacidosis onset, childhood onset, infancy onset, neonatal prominent abdomen