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Disease	LYSINURIC PROTEIN INTOLERANCE (LPI)
Synonym	HYPERDIBASIC AMINOACIDURIA II; DIBASIC AMINOACIDURIA II; HYPERDIBASIC AMINOACIDURIA II; LPI
OMIM	222700 Comprehensive, authoritative, and timely compendium of human genes and genetic phenotypes OMIM = Online Medalian Inheritance of Men
Orphanet	Short summery, also for non professionals on www.orpha.net
Enzyme	defective cationic amino acid (CAA) transport at the basolateral membrane of epithelial cells in the intestine and kidney
Gene locus	14q11.2
genetests.org	search search on genetest.org by MIM 222700
Summary	1:60000 in Finland; autosomal recessive; mutations in the SLC7A7 gene
Clinical symptoms	Amino acids, urine anemia bone fractures bone marrow abnormality cataract coma diarrhea failure to thrive feeding difficulties, poor feeding growth retardation hair, abnormal (thin, brittle) hyperammonemia hypothermia hypotonia interstitial pneumonitis large liver large spleen lethargy, drowsiness, malaise or sleep disorder mental retardation neutropenia (decreased neutrophils) onset, child onset, infant onset, newborn osteoporosis pancreatitis pulmonary alveolar proteinosis renal failure, acute/chronic respiratory distress seizures spastic diplegia/quadriplegia tachypnea, hyperpnea, dyspnea, respiratory distress thrombopenia, thrombocytopenia vomiting X-ray, abnormalities
Abnormal Findings in blood	Ammonia, after protein load Normal: 25.00-80.00 µmol/l \| Significant : 100.00-300.00 µmol/l Retikulocytes \| Significant : - increased
Abnormal Findings in plasma	Glutamine Normal: 376.00-709.00 µmol/l \| Significant : 500.00-1000.00 µmol/l
Abnormal Findings in serum	Carnitine \| Significant : - decreased Ferritin Normal: 7.00-140.00 µg/l \| Significant : - increased Lactate dehydrogenase (LDH) Normal: 120.00-330.00 U/l \| Significant : - increased Thyroxine binding globuline (TBG) Normal: 22.00-42.00 mg/dl \| Significant : - increased
Abnormal Findings in urine	Arginine Normal: 35.00-214.00 µmol/l \| Significant : 20.00-100.00 µmol/l Hydroxyproline, pubertal growth Normal: 0.00-3000.00 µmol/l \| Significant : - increased Lysine Normal: 7.00-29.00 mmol/mol creatinine \| Significant : 10.00-125.00 mmol/mol creatinine Ornithine Normal: 2.00-8.00 mmol/mol creatinine \| Significant : 20.00-100.00 mmol/mol creatinine Orotic acid, after protein load Normal: 0.00-11.00 mmol/mol creatinine \| Significant : 1.00-640.00 mmol/mol creatinine
Treatment	citrulline immune globuline, intravenous L-carnitine low-protein diet lung lavage lysine
Literature	There are 14 publications available. Click here to open the relevant LYSINURIC PROTEIN INTOLERANCE (LPI) publications Autoren: Prof. Dr. Friedrich Trefz, Dr. Frauendienst, database architect: Götz. E-Mail: trefz_f@kreiskliniken-reutlingen.de Last update 16.10.201218:55 Click zum Schliessen des Fensters