Abnormal bleeding, Abnormal bone structure, Abnormal glucose homeostasis, Abnormality of amino acid metabolism, Abnormality of aromatic amino acid family metabolism, Abnormality of aspartate family amino acid metabolism, Abnormality of blood and blood-forming tissues, Abnormality of blood circulation, Abnormality of blood glucose concentration, Abnormality of body weight, Abnormality of bone mineral density, Abnormality of carbohydrate metabolism/homeostasis, Abnormality of carboxylic acid metabolism, Abnormality of cardiovascular system physiology, Abnormality of central motor function, Abnormality of circulating protein level, Abnormality of ion homeostasis, Abnormality of metabolism/homeostasis, Abnormality of methionine metabolism, Abnormality of phosphate homeostasis, Abnormality of renal physiology, Abnormality of renal resorption, Abnormality of skeletal morphology, Abnormality of sulfur amino acid metabolism, Abnormality of the abdomen, Abnormality of the abdominal organs, Abnormality of the abdominal wall, Abnormality of the cardiovascular system, Abnormality of the central nervous system, Abnormality of the gastrointestinal tract, Abnormality of the genitourinary system, Abnormality of the heart, Abnormality of the immune system, Abnormality of the intestine, Abnormality of the kidney, Abnormality of the liver, Abnormality of the lymphatic system, Abnormality of the myocardium, Abnormality of the nervous system, Abnormality of the peripheral nervous system, Abnormality of the skeletal system, Abnormality of the spleen, Abnormality of the upper urinary tract, Abnormality of the urinary system, Abnormality of the urinary system physiology, Abnormality of tyrosine metabolism, Abnormality of urine homeostasis, Acute hepatic failure, All, Ascites, Autosomal recessive inheritance, Cardiomyopathy, Cirrhosis, Decreased body weight, Decreased liver function, Elevated alpha-fetoprotein, Elevated hepatic transaminases, Elevated urinary delta-aminolevulinic acid, Episodic peripheral neuropathy, Failure to thrive, Gastrointestinal dysmotility, Gastrointestinal hemorrhage, Gastrointestinal obstruction, Glomerulosclerosis, Growth abnormality, Hepatic failure, Hepatocellular carcinoma, Hepatomegaly, Hypermethioninemia, Hypertrophic cardiomyopathy, Hypertyrosinemia, Hypoglycemia, Hypophosphatemia, Hypophosphatemic rickets, Ileus, Internal hemorrhage, Intestinal obstruction, Malformation of the heart and great vessels, Mode of inheritance, Morphological abnormalities of the glomeruli, Neoplasm, Neoplasm by anatomical site, Neoplasm of the gastrointestinal tract, Neoplasm of the liver, Nephrocalcinosis, Paralysis, Paralytic ileus, Periodic paralysis, Peripheral neuropathy, Phenotypic abnormality, Reduced bone mineral density, Renal Fanconi syndrome, Renal insufficiency, Rickets, Splenomegaly, Visceromegaly.