HYPERLYSINEMIA II OR SACCHAROPINURIA

Question 1

What is  HYPERLYSINEMIA II OR SACCHAROPINURIA?

Accepted Answer

very rare
autosomal recessive

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Hyperlysinämie Typ II; Saccharopinurie

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 268700

Question 4

Which enzymes are involved?

Accepted Answer

Saccharopine dehydrogenase (NAD+, L-lysine forming)

Disease	HYPERLYSINEMIA II OR SACCHAROPINURIA
Synonym	SACCHAROPINE DEHYDROGENASE DEFICIENCY; ALPHA-AMINOADIPIC SEMIALDEHYDE SYNTHASE DEFICIENCY
OMIM	268700 OMIM = Online Mendelian Inheritance of Men
Orphanet	3124
ExPASy	1.5.1.7
Gene locus	7q31.32
ICD	E72.3
Summary	very rare autosomal recessive
Laboratory findings	L-Lysine inc (urine) Citrulline inc (plasma) Citrulline inc (urine) Homocitrulline normal/inc (urine) L-Lysine inc (plasma) L-Lysine inc (cerebrospinal fluid) N-Acetyllysine normal/inc (urine) Saccharopine inc (urine) Saccharopine inc (plasma)
Symptoms	EEG abnormalities [-] growth retardation, poor growth mental retardation no clinical symptoms (probably) onset, adulthood short stature spastic diplegia/quadriplegia/tetraplegia