BLUE DIAPER SYNDROME

Question 1

What is  BLUE DIAPER SYNDROME?

Accepted Answer

very rare
autosomal recessive vs X-linked
PCSK1 mutation
bluish discoloration of the diaper

intestinal tryptophan transport defect?

BDS can be caused by PCSK1 mutations [Distelmaier F 2018]

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Blue-Diaper-Syndrom; Syndrom der blauen Windeln; Drummond-Syndrom

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 211000

Question 4

Which enzymes are involved?

Accepted Answer

associated with mutations in the LAT2 and TAT1 genes

Disease	BLUE DIAPER SYNDROME
Synonym	HYPERCALCEMIA, FAMILIAL, WITH NEPHROCALCINOSIS AND INDICANURIA
OMIM	211000 OMIM = Online Mendelian Inheritance of Men
Orphanet	94086
Gene locus	---
ICD	E70.8
Summary	very rare autosomal recessive vs X-linked PCSK1 mutation bluish discoloration of the diaper intestinal tryptophan transport defect? BDS can be caused by PCSK1 mutations [Distelmaier F 2018]
Laboratory findings	5-Hydroxyindolacetic acid (5-HIAA) inc (urine) Calcium inc (serum) D-Glucose normal/inc (blood) Indican inc (urine) Indole-3-acetic acid inc (urine) Transaminases (ASAT/ALAT) normal/inc (serum)
Symptoms	blue colored urine diarrhea eye movements, abnormal fever hypoglycemia liver involvement or dysfunction metabolic acidosis microcornea nephrocalcinosis onset, childhood onset, infancy urine color, abnormal