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GRACILE syndrome
- GRACILE syndrome is a severe disorder that begins before birth. GRACILE stands for the condition's characteristic features: growth retardation, aminoaciduria, ...
- ... one mutation in the BCS1L gene can cause GRACILE syndrome, a severe condition that affects several body systems ... after birth.The BCS1L gene mutation that causes GRACILE syndrome changes a single protein building block (amino acid) ...
- Mitochondrial Diseases (National Library of Medicine)Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive ...
- ... called familial hyperinsulinism Familial Mediterranean fever Fanconi anemia GRACILE syndrome Gaucher disease Glycogen storage disease type I Hereditary ...