CYSTINURIA

Question 1

What is  CYSTINURIA?

Accepted Answer

rare (1:7000)
autosomal dominant

autosomal recessive

mutation in the SLC3A1 amino acid transporter gene

mutations in the SLC7A9 gene

3 allelic types (I, II, III)

3 similar but distinct syndromes associated with cystinuria type I have been described: 2p21 deletion syndrome, Hypotonia-Cystinuria Syndrome (HCS) and atypical HCS [Martens K 2008]

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Zystinurie; Cystinurie mit Lysinurie

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 220100

Question 4

Which enzymes are involved?

Accepted Answer

Neutral and basic amino acid transport protein rBAT, b(0,+)-type amino acid transporter 1

Disease	CYSTINURIA
OMIM	220100 OMIM = Online Mendelian Inheritance of Men
Orphanet	214
Protein (UniProt)	Neutral and basic amino acid transport protein rBAT, b(0,+)-type amino acid transporter 1
Gene locus	2p21, 19q13.11
ICD	E72.0
Summary	rare (1:7000) autosomal dominant autosomal recessive mutation in the SLC3A1 amino acid transporter gene mutations in the SLC7A9 gene 3 allelic types (I, II, III) 3 similar but distinct syndromes associated with cystinuria type I have been described: 2p21 deletion syndrome, Hypotonia-Cystinuria Syndrome (HCS) and atypical HCS [Martens K 2008]
Laboratory findings	L-Lysine inc (urine) Ornithine inc (urine) Arginine inc (urine) Cysteinyl leukotrienes (LTE4) inc (urine) Cystine inc (urine)
Symptoms	urolithiasis, nephrolithiasis, kidney stones hematuria infections (urinary tract) renal failure, acute/chronic renal failure, chronic Amino acids, urine cataract hypertension onset, adolescent onset, adulthood onset, childhood onset, infancy pain, abdominal ultrasound, abdominal, abnormal unusual odor / odour urine crystals X-ray, abnormalities