GLYCOGEN STORAGE DISEASE TYPE IB

Question 1

What is  GLYCOGEN STORAGE DISEASE TYPE IB?

Accepted Answer

rare (1:200.000)
autosomal recessive
mutation in the G6PT1 gene
one patient known to the authors (unpublished), resistance to infections improved by gamma-globuline treatment

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

GSD [Glykogenspeicherkrankheit] Typ 1b; Glukose-6-Phosphatase-Translokase-Mangel; Glukose-6-Phosphat-Transportdefekt

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 232220

Question 4

Which enzymes are involved?

Accepted Answer

Glucose-6-phosphate exchanger SLC37A4

Disease	GLYCOGEN STORAGE DISEASE TYPE IB
Synonym	GSD1b; GLYCOGEN STORAGE DISEASE I non A; GSD1 non a
OMIM	232220 OMIM = Online Mendelian Inheritance of Men
Orphanet	364
Protein (UniProt)	Glucose-6-phosphate exchanger SLC37A4
Gene locus	11q23.3
ICD	E74.0
Summary	rare (1:200.000) autosomal recessive mutation in the G6PT1 gene one patient known to the authors (unpublished), resistance to infections improved by gamma-globuline treatment
Laboratory findings	Cholesterol inc (serum) D-Glucose normal/dec (serum) Ketone bodies (urine) decreased (plasma) L-Lactic acid inc (plasma) Triglycerides inc (serum) Uric acid inc (serum) bleeding time dec (blood) Transaminases (ASAT/ALAT) normal/inc (serum)
Symptoms	bleeding tendencies, hemorrhages hepatomegaly (large liver) hypoglycemia infections (severe or recurrent) liver carcinoma neutropenia (decreased neutrophils) obesity osteopenia pancreatitis short stature tachypnea, hyperpnea, dyspnea, hyperventilation cirrhosis or fibrosis of liver early death glomerulosclerosis gout hepatoma hypotonia infections (local, abscesses) ketosis, ketoacidosis lactic acidosis nose bleed onset, childhood onset, infancy onset, neonatal oral ulcers osteoporosis seizures thrombopenia, thrombocytopenia xanthoma