CYSTATHIONINURIA

Question 1

What is  CYSTATHIONINURIA?

Accepted Answer

rare (1:100000)
autosomal recessive
cysthationinuria: premature infants vitamin B6 deficiency thyrotoxicosis generalized liver damage methylenetetrahydrofolate reductase clbC mutations vitamin B12 or folate deficiency

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Cystathioninurie; Cystathionase-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 219500

Question 4

Which enzymes are involved?

Accepted Answer

Cystathionine gamma-lyase (liver gamma-cysthationase)

Disease	CYSTATHIONINURIA
Synonym	GAMMA-CYSTATHIONASE DEFICIENCY (CTH)
OMIM	219500 OMIM = Online Mendelian Inheritance of Men
Orphanet	212
Protein (UniProt)	Cystathionine gamma-lyase (liver gamma-cysthationase)
ExPASy	4.4.1.1
Gene locus	1q31.1
ICD	E72.1
Summary	rare (1:100000) autosomal recessive cysthationinuria: premature infants vitamin B6 deficiency thyrotoxicosis generalized liver damage methylenetetrahydrofolate reductase clbC mutations vitamin B12 or folate deficiency
Laboratory findings	gamma-Cystathionase dec (liver) L-Cystathionine inc (plasma) L-Cystathionine inc (urine) L-Cystathionine inc (cerebrospinal fluid) N-Acetylcystathionine inc (urine)
Symptoms	Amino acids, plasma Amino acids, urine behavior, hyperactive, restless congenital heart defect diabetes insipidus ear anomalies (pits, creases) mental retardation no clinical symptoms (probably) onset, childhood seizures