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Summary
LYSINURIC PROTEIN INTOLERANCE (LPI)
HYPERDIBASIC AMINOACIDURIA II DIBASIC AMINOACIDURIA II HYPERDIBASIC AMINOACIDURIA II LPI
222700
OMIM = Online Medalian Inheritance of Men
470
14q11.2
  • citrulline
  • immune globuline, intravenous
  • L-carnitine
  • low-protein diet
  • lung lavage
  • lysine
1:60000 in Finland
autosomal recessive
mutations in the SLC7A7 gene
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)
hepatomegaly (large liver)
hyperammonemia
hypothermia
hypotonia
interstitial pneumonitis
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
skin hyperelasticity
skin, abnormal
spastic diplegia/quadriplegia
splenomegaly (large spleen)
tachypnea, hyperpnea, dyspnea, respiratory distress
thrombopenia, thrombocytopenia
vomiting
X-ray, abnormalities
laboratory finding
Orotic acid1.00640.000.0011.00mmol/mol creatinineurine
Lysine10.00125.0010.0069.00mmol/mol creatinineurine
Arginine20.00100.0035.00214.00+Ôé¼mol/lurinenewborn
Ammonia100.00300.0025.0080.00-Ámol/lblood
Glutamine500.001000.00376.00709.00-Ámol/lplasma
Ornithine20.00100.000.0014.00mmol/mol creatinineurine
Thyroxine binding globuline (TBG) 22.0042.00increasedserum
Ferritin 7.00140.00increasedserum
Lactate dehydrogenase (LDH) 120.00330.00increasedserum
Hydroxyproline0.000.000.003000.00increasedurinechild
Retikulocytes increasedblood
Carnitine decreasedserum
Glutamine0.000.00 increasedurineno data
Citrulline0.000.00 decreasedurineno data
Literature
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Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Shoffner JMAn introduction: oxidative phosphorylation diseasesSemin Neurol213237-2502001
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