| LYSINURIC PROTEIN INTOLERANCE (LPI) | |
| HYPERDIBASIC AMINOACIDURIA II; DIBASIC AMINOACIDURIA II; HYPERDIBASIC AMINOACIDURIA II; LPI | |
|
222700
OMIM = Online Mendelian Inheritance of Men | |
|
470 | |
| Y+L amino acid transporter 1 | |
| 1:60000 in Finland autosomal recessive mutations in the SLC7A7 gene | |
| Laboratory findings | Ammonia inc (blood) Citrulline inc (plasma) Hydroxyproline inc (urine) L-Lysine inc (urine) Arginine inc (urine) Ferritin inc (serum) Glutamine inc (plasma) Glutamine inc (urine) L-Carnitine dec (serum) Lactate dehydrogenase (LDH) inc (serum) Ornithine inc (urine) Orotic acid inc (urine) Retikulocytes inc (blood) Thyroxine binding globuline (TBG) inc (serum) |
| Symptoms | hyperammonemia feeding, protein aversion or intolerance Amino acids, urine anemia bone fractures bone marrow abnormality cataract coma diarrhea encephalopathy failure to thrive feeding difficulties, poor feeding growth retardation, poor growth hair, abnormal (thin, brittle, fine) hepatomegaly (large liver) hypertension hypothermia hypotonia interstitial pneumonitis lethargy, drowsiness, apathy mental retardation muscle weakness nausea neutropenia (decreased neutrophils) onset, childhood onset, infancy onset, neonatal osteoporosis pancreatitis pulmonary alveolar proteinosis renal failure, acute/chronic respiratory distress seizures skin hyperelasticity skin, abnormal spastic diplegia/quadriplegia/tetraplegia splenomegaly (large spleen) tachypnea, hyperpnea, dyspnea, hyperventilation thrombopenia, thrombocytopenia vomiting X-ray, abnormalities |