CYSTINYLGLYCINURIA

Question 1

What is  CYSTINYLGLYCINURIA?

Accepted Answer

membrane-bound dipeptidase deficiency, a new defect in leukotriene biosynthesis on the step of LTE(4) synthesis, as underlying defect [Mayatepek E,  2005]

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Cystinylglycinurie

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 179780

Question 4

Which enzymes are involved?

Accepted Answer

Dipeptidase 1

Disease	CYSTINYLGLYCINURIA
Synonym	MEMBRANE-BOUND DIPEPTIDASE (CYTEINYL-DIPEPTIDASE) DEFICIENCY
OMIM	179780 OMIM = Online Mendelian Inheritance of Men
ExPASy	3.4.13.11
Gene locus	16q24.3 Detail information to gene locus by the National Center for Biotechnology Information NCBI: Dipeptidase 1
ICD
Summary	membrane-bound dipeptidase deficiency, a new defect in leukotriene biosynthesis on the step of LTE(4) synthesis, as underlying defect [Mayatepek E, 2005]
Laboratory findings	Cysteinyl leukotrienes (LTD4) inc (urine) Cysteinyl leukotrienes (LTE4) dec (urine) Cystinylglycine inc (urine) Cystinylglycine inc (plasma) L-Cysteine inc (urine)
Symptoms	EEG abnormalities [-] EMG abnormalities [-] hand and/or feet deformities hearing defect, deafness mental retardation motor retardation onset, adolescent peripheral neuropathy psychomotor retardation