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Summary

Disease	SARCOSINEMIA
Synonym	SARCOSINE DEHYDROGENASE COMPLEX DEFICIENCY HYPERSARCOSINEMIA
OMIM	268900 OMIM = Online Medalian Inheritance of Men
Orphanet	3129
Gene locus	9q34.2
Treatment	no specific treatment
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!)

symptoms

Amino acids, plasma

Amino acids, urine

ataxia

blindness, visual loss, visual impairment

cardiomyopathy

cranial synostosis

failure to thrive

feeding difficulties, poor feeding

growth retardation, poor growth

mental retardation

no consistent clinical signs or symptoms

onset, childhood

onset, infancy

onset, neonatal

vomiting

laboratory finding

Metabolite	min	max	Norm. min	Norm. max	unit	specimen	agegroup
Sarcosine	50.00	760.00	0.00	625.00	-Ámol/l	plasma
Sarcosine	100.00	5000.00	0.00	56.00	mmol/mol creatinine	urine

Literature

Author	Co-Author	Title	society	book	volume	number	pages	Year
Walterfang M,	et al.	The neuropsychiatry of inborn errors of metabolism	J Inherit Metab Dis		36	4	687-702	2013
Bonioli E	et al.	Fumarate hydratase deficiency	J Inherit Metab Dis		21	4	435-436	1998
Shin YS		Galactose Metabolites and Disorders of Galactose Metabolism	Techniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York		0	0	267-283	1991
Sewell AC	et al.	Mitochondrial acetoacetyl-CoA thiolase (+ƒ-ketothiolase) deficiency and pregnancy	J Inherit Metab Dis		21	4	441-442	1998
Lehnert W	Ruitenbeek W	Ethylmalonic aciduria associated with progressive neurological disease and partial cytochrome c oxidase deficiency	J Inh Met Dis		16	0	557-559	1993
Hoffmann GF	Meier-Augenstein W, St+Âckler S, Surtees R, Rating D, Nyhan WL	Physiology and Pathophysiology of Organic Acid in Cerebrospinal Fluid	J Inherit Metab Dis		16	0	648-669	1993
Mock DM	et al.	Disturbances in biotin metabolism in children undergoing long-term anticonvulsant therapy	J Pediatr Gastroenterol Nutr		26	3	245-250	1998
Kure S	et al.	A subtype of pyridoxine-dependent epilepsy with normal CSF glutamate concentration	J Inherit Metab Dis		21	4	431-432	1998