DIMETHYLGLYCINURIA (DMGDHD)

Question 1

What is  DIMETHYLGLYCINURIA (DMGDHD)?

Accepted Answer

very rare
autosomal recessve
mutation in the DMGDH
This deficiency is the first inborn error of metabolism discovered by use of in vitro 1H NMR spectroscopy of body fluids [Moolenar et al. 1999]

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Dimethylglycin-Dehydrogenase-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 605850

Question 4

Which enzymes are involved?

Accepted Answer

dimethylglycine dehydrogenase

Disease	DIMETHYLGLYCINURIA (DMGDHD)
Synonym	DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY, DMGDH DEFICIENCY
OMIM	605850 OMIM = Online Mendelian Inheritance of Men
Orphanet	243343
Protein (UniProt)	dimethylglycine dehydrogenase
ExPASy	1.5.99.2
Gene locus	5q14.1
ICD	E72.5
Summary	very rare autosomal recessve mutation in the DMGDH This deficiency is the first inborn error of metabolism discovered by use of in vitro 1H NMR spectroscopy of body fluids [Moolenar et al. 1999]
Laboratory findings	Dimethylglcine inc (urine) Creatine kinase inc (serum) Dimethylglcine inc (serum) N,N-Dimethylglycine inc (urine)
Symptoms	fishy body odor, rotting fish odor no clinical symptoms (probably) MRS, brain, abnormalities muscle fatigue muscle weakness onset, childhood unusual odor / odour