BETA-MERCAPTOLACTATE-CYSTEINE DISULFIDURIA

Question 1

What is  BETA-MERCAPTOLACTATE-CYSTEINE DISULFIDURIA?

Accepted Answer

very rare
autosomal recessive

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Beta-Mercaptolaktat-Cystein Disulfidurie

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 249650

Question 4

Which enzymes are involved?

Accepted Answer

3-mercaptopyruvate sulfurtransferase

Disease	BETA-MERCAPTOLACTATE-CYSTEINE DISULFIDURIA
Synonym	MERCAPTOLACTATE-CYSTEINE DISULFIDURIA; AMPOLA SYNDROME
OMIM	249650 OMIM = Online Mendelian Inheritance of Men
Orphanet	1035
Protein (UniProt)	3-mercaptopyruvate sulfurtransferase
ExPASy	2.8.1.2
Gene locus	unknown
ICD	E72.1
Summary	very rare autosomal recessive
Laboratory findings	beta-Mercaptolactate cysteine disulfide inc (urine) Mercaptolactate inc (urine) Mercaptopyruvate inc (urine)
Symptoms	anemia cataract increased weight for age, height and sex (>2 SD) mental retardation nystagmus onset, adulthood onset, childhood seizures