HYPERLYSINURIA

Question 1

What is  HYPERLYSINURIA?

Accepted Answer

very rare
probably nondisease because of ascertainment bias Lysine (urine) is increased in preterms and newborns

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Hyperlinurie; Lysinmalabsorption

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 247950

Question 4

Which enzymes are involved?

Accepted Answer

defect in lysine transport

Disease	HYPERLYSINURIA
Synonym	LYSINE MALABSORPTION SYNDROME
OMIM	247950 OMIM = Online Mendelian Inheritance of Men
Gene locus	unknown
ICD	E72.3
Summary	very rare probably nondisease because of ascertainment bias Lysine (urine) is increased in preterms and newborns
Laboratory findings	L-Lysine inc (urine) Hydroxylysine inc (urine)
Symptoms	Amino acids, urine growth retardation, poor growth mental retardation no clinical symptoms (probably) onset, infancy