Visit Metagene.de!
Summary
HYPERLYSINEMIA II OR SACCHAROPINURIA
SACCHAROPINE DEHYDROGENASE DEFICIENCY ALPHA-AMINOADIPIC SEMIALDEHYDE SYNTHASE DEFICIENCY
268700
OMIM = Online Medalian Inheritance of Men
3124
7q31.32
very rare
autosomal recessive
symptoms
growth retardation
mental retardation
no clinical signs or symptoms
onset, adulthood
short stature
spastic diplegia/quadriplegia
laboratory finding
Saccharopine increasedurine, cerebrospinalno data
Saccharopine increasedplasma
L-Lysine 10.0025.00increasedcerebrospinal fluid
L-Lysine200.001000.0010.0069.00mmol/mol creatinineurinechildhood
L-Lysine 66.00270.00increasedplasma
Citrulline0.000.000.0010.00increasedurinechildhood
Citrulline 15.0055.00increasedplasma
EEG abnormalities -
Homocitrulline normal-increasedurine
N-Acetyllysine normal-increasedurine
Literature
Vega BTet al.Autosomal recessive Alports syndrome and benign familial hematuria are collagen type IV diseasesAm J Kidney Dis425952-9592003
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
Jais JPet al.X-linked alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a European Community Alport Syndrome Concerted Action studyJ Am Soc Nephrol14102603-26102003