SARCOSINEMIA

Question 1

What is  SARCOSINEMIA?

Accepted Answer

rare (1:350000, ~50 cases)
autosomal recessive
mutation in the SARDH gene
Sarcosinemia is caused by a defect in the conversion of sarcosine to glycine, it is most probably a benigne disorder Sarcosinemia also with Glutaric acidemia II and Folate deficiency (goats milk feeding!)

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Sarkosinämie; Sarkosin-Dehydrogenase-Komplex-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 268900

Question 4

Which enzymes are involved?

Accepted Answer

Sarcosine dehydrogenase, mitochondrial

Disease	SARCOSINEMIA
Synonym	SARCOSINE DEHYDROGENASE COMPLEX DEFICIENCY; HYPERSARCOSINEMIA
OMIM	268900 OMIM = Online Mendelian Inheritance of Men
Orphanet	3129
Protein (UniProt)	Sarcosine dehydrogenase, mitochondrial
ExPASy	1.5.99.1
Gene locus	9q34.2
ICD	E72.5
Summary	rare (1:350000, ~50 cases) autosomal recessive mutation in the SARDH gene Sarcosinemia is caused by a defect in the conversion of sarcosine to glycine, it is most probably a benigne disorder Sarcosinemia also with Glutaric acidemia II and Folate deficiency (goats milk feeding!)
Laboratory findings	Sarcosine inc (plasma) Sarcosine inc (urine)
Symptoms	no clinical symptoms (probably) Amino acids, plasma Amino acids, urine ataxia blindness, visual loss, visual impairment cardiomyopathy craniostenosis developmental delay dystonia failure to thrive feeding difficulties, poor feeding growth retardation, poor growth mental retardation onset, childhood onset, infancy onset, neonatal vomiting