Visit Metagene.de!
Summary
HYPERLYSINEMIA I, FAMILIAL
SACHAROPINURIA, LYSINEMIA FAMILIAL
238700
OMIM = Online Medalian Inheritance of Men
2203
7q31.32
rare
autosomal recessive
mutation in the alpha-aminoadipic semialdehyde synthase gene
2 variants:
- hyperlysinemia I (MIM 238700)
- hyperlysinemia II or saccharopinuria (MIM 268700)
symptoms
Amino acids, plasma
Amino acids, urine
behavior, hyperactive, restless
cognitive impairment
dislocated lens (ectopia lentis)
growth retardation, poor growth
hypertonia, spasticity
hypotonia
mental retardation
no consistent clinical signs or symptoms
onset, infancy
seizures
speech difficulties
laboratory finding
L-Lysine200.001000.0010.0069.00mmol/mol creatinineurine
L-Lysine800.001000.0066.00270.00-Ámol/lplasma
Saccharopine increasedurine
Saccharopine dehydrogenase 100.00decreased activityliver
Pipecolic acid20.0040.000.404.90-Ámol/lplasma
Lysine ketoglutarate reductase 100.00decreased activityfibroblasts
Ornithine30.00300.00 mmol/mol creatinineurine
Literature
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Shozu Met al.Estrogen excess associated with novel gain-of-function mutations affecting the aromatase geneN Engl J Med348191855-18652003
Deng H,Yuan LMolecular genetics of congenital nuclear cataractEur J Med Genet572113-1222014
De Luca Met al.Dopa decarboxylase (Ddc) affects variation in Drosophila longevityNat Genet344429-4332003
Picker JDet al.Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edemaJ Pediatr1423349-3522003
Wilson CJet al.Apolipoprotein C-II deficiency presenting as a lipid encephalopathy in infancyAnn Neurol536807-8102003