| GLYCOGEN STORAGE DISEASE TYPE IA | |
| GSD1a; VON GIERKE DISEASE | |
|
232200
OMIM = Online Mendelian Inheritance of Men | |
|
364 | |
| glucose-6-phosphatase, liver, kidney | |
| 3.1.3.9 | |
| rare (1:100.000) autosomal recessive mutation in the G6PC gene | |
| Laboratory findings | Uric acid inc (plasma) Uric acid inc (urine) Oxypurinol (Allopurinol-metabolite) normal/inc (urine) 2-Hydroxyisobutyric acid inc (plasma) bleeding time dec (blood) Bratton-Marshall test (urine) inc (plasma) Cholesterol inc (plasma) D-Glucose normal/dec (serum) Glucose 6-phosphatase dec (liver) L-Lactic acid normal/inc (urine) L-Lactic acid inc (blood) Protein inc (urine) Transaminases (ASAT/ALAT) normal/inc (serum) Triglycerides inc (serum) |
| Symptoms | hepatomegaly (large liver) hypoglycemia adiposity bleeding tendencies, hemorrhages diarrhea glomerulosclerosis liver carcinoma liver involvement or dysfunction osteopenia pancreatitis renal enlargement short stature tachypnea, hyperpnea, dyspnea, hyperventilation early death facies, cherubic (dolls face) failure to thrive Fanconi syndrome gout hepatoma hyperuricemia hypotonia lactic acidosis metabolic acidosis microcephaly (<2 SD for age) micropenis nephromegaly nose bleed onset, childhood onset, infancy onset, neonatal osteoporosis prominent abdomen seizures thrombopenia, thrombocytopenia urolithiasis, nephrolithiasis, kidney stones xanthoma |