GLYCOGEN STORAGE DISEASE TYPE IC

Question 1

What is  GLYCOGEN STORAGE DISEASE TYPE IC?

Accepted Answer

very rare
autosomal recessive

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

GSD [Glykogenspeicherkrankheit] Typ 1c; Glukose-6-Phosphatase-Mangel;

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 232240

Question 4

Which enzymes are involved?

Accepted Answer

Glucose-6-phosphate exchanger SLC37A4

Disease	GLYCOGEN STORAGE DISEASE TYPE IC
Synonym	GSD1c; GLYCOGENOSIS, TYPE IC
OMIM	232240 OMIM = Online Mendelian Inheritance of Men
Orphanet	364
Protein (UniProt)	Glucose-6-phosphate exchanger SLC37A4
Gene locus	11q23.3
ICD	E74.0
Summary	very rare autosomal recessive
Laboratory findings	bleeding time dec (blood) Cholesterol inc (serum) D-Glucose normal/dec (serum) Ketone bodies (urine) inc (urine) L-Lactic acid inc (blood) Transaminases (ASAT/ALAT) normal/inc (serum) Triglycerides inc (serum) Uric acid inc (serum)
Symptoms	growth retardation, poor growth hematuria hepatomegaly (large liver) hypoglycemia hypotonia ketosis, ketoacidosis lactic acidosis metabolic acidosis motor retardation nose bleed onset, childhood onset, infancy pancreatitis proteinuria puberty, delayed or missing pulmonary hypertension renal failure, acute/chronic seizures thrombopenia, thrombocytopenia xanthoma