Table 2 Table caption
Patient no. | P1 | P2 | P3 | P4 | P5-1 | P5-2 |
|---|---|---|---|---|---|---|
Mutation | ||||||
cDNA | c.1042_1043delCT | c.1042_1043delCT | c.1042_1043delCT | c.365G>A | g.118895235_118901 | g.118895235_118901 |
Protein | p.Leu348Valfs*53 | p.Leu348Valfs*53 | p.Leu348Valfs*53 | p.Gly122Glu | 946del | 946del |
Gender | F | M | F | F | F | M |
Age(yr) | 8 | 2.5 | 5.5 | 5 | 19 | 9 |
Age at onset | 10 days | At birth | 1 mon | 9 mon | since birth | 4 mon |
Age at diagnosis | 4 mon | 3 mon | 4 mon | 1 year | 3 mon | 5 mon |
Initial presentations | -Diarrhea -Lethargy -Hypoglycemia -Hepatomegaly -Failure to thrive -Poor feeding -Metabolic acidosis | -Respiratory distress -Vomiting -Hypoglycemia -Metabolic acidosis -Poor feeding | -Aphthous stomatitis -Pneumonia -Diarrhea -Cellulite around the breast -Hepatomegaly | -Hypoglycemia -Hepatomegaly | -Hepatomegaly -Nausea -Acidosis -Poor feeding -Elevated triglyceride and cholesterol | -Metabolic acidosis -Lethargy -Tachypnea -Vomiting -Poor feeding -Seizure at birth -Hepatomegaly |
Liver biopsy | -Liver steatosis | -Compatible with GSD | -Liver steatosis | -Liver steatosis | -Liver steatosis | -Liver steatosis |
Infections | -Otitis -Respiratory tract infection -Gastroenteritis -Sever aphthous stomatitis | -Aphthous stomatitis -Pneumonia | -Recurrent pneumonia -Oral candidiasis -Aphthous stomatitis -Nipple abscess | -Otitis media -Gingivitis | -Otitis -Pharyngitis -Periodic aphthous stomatitis | -Aphthous stomatitis |
Neutropeniaa | ||||||
WBC (*103/μl) | 7.3 | 6.99 | 6.0 | 7.08 | 1.5 | 2.5 |
ANC /μL | 400 | 489 | 300 | 977 | 267 | 500 |
Hepatomegaly | + | + | + | + | + | + |
Hypoglycemia ( <60mg/dl) | + | + | + | + | + | + |
Chubby face | + | + | + | + | - | - |
Increased AST/ ALT (Up to 37 U/L)/ (Up to 41 U/L) | + | + | + | + | - | - |
Hyperlipidemia (>160 mg/dl) | + | + | + | + | - | - |
Hypercholesterolemia (>200 mg/dl) | - | - | + | - | + | - |
Hyperlactatemia (>2.5 mg/dl) | + | + | + | + | NA | NA |
Hyperuricemia (>5 mg/dl) | + | + | - | + | - | - |
Other features | -Nephromegaly -IBD-Like disorder - Anemia -Hospitalization (12 times) | -Hospitalization (4 times) -Increased ESR -Anemia -Seizure (one time) -Presence atypical cells in peripheral blood smear (PBS)b | -Hepatosplenomegaly -Increased ESR -Epistaxis -Seizure (4 times) -Severe hearing loss -Otitis -Autism-like behaviors - Vision weakness - Strabismus -Developmental delay -Gingivitis - Anemia | -Hypothyroidism | -Nephromegaly -Increased ESR -Anemia -Hepatosplenomegaly | -Increased ESR -Anemia -Severeosteopenia |
Prescribed Drugs | -Corn starch -Allopurinol -Bicarbonate -G-CSF -Intravenous injection of Mg, P and Na solutions -Phenobarbital -Mupirocin -Fluconazol | -Corn starch -Galactomin -G-CSF -Allopurinol -Bicarbonate | -Corn starch -G-CSF -Anti-seizure drugs | -Corn starch -Bicarbonate | -Corn starch -G-CSF | -Corn starch -G-CSF |