3-METHYLGLUTACONIC ACIDURIA (TYPE VI); MGCA6 (MEGDEL)

Question 1

What is  3-METHYLGLUTACONIC ACIDURIA (TYPE VI); MGCA6 (MEGDEL)?

Accepted Answer

very rare
autosomal recessive

mutation in the SERAC1 gene

Adult-onset generalized dystonia can be the main manifestation in milder atypical forms of MEGDEL syndrome [Giron C et al. 2018]

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

3-Methylglutaconazidurie Typ 6

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 614739

Question 4

Which enzymes are involved?

Accepted Answer

Protein SERAC1

Disease	3-METHYLGLUTACONIC ACIDURIA (TYPE VI); MGCA6 (MEGDEL)
Synonym	ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME; MEGDHEL; SERAC1
OMIM	614739 OMIM = Online Mendelian Inheritance of Men
Orphanet	352328
Protein (UniProt)	Protein SERAC1
Gene locus	6q25.3
ICD	E71.1
Summary	very rare autosomal recessive mutation in the SERAC1 gene Adult-onset generalized dystonia can be the main manifestation in milder atypical forms of MEGDEL syndrome [Giron C et al. 2018]
Laboratory findings	L-Lactic acid normal/inc (cerebrospinal fluid) L-Lactic acid normal/inc (plasma) 3-Hydroxyisovaleric acid normal/inc (urine) 3-Methylglutaconic acid inc (urine) alpha-Fetoprotein inc (serum) Ammonia normal/inc (blood) D-Glucose normal/dec (plasma) Transaminases (ASAT/ALAT) normal/inc (plasma)
Symptoms	basal ganglia, changes, lesions, calcifications (MRI, CT) cerebellar atrophy or hypoplasia cerebral atrophy dystonia encephalopathy extrapyramidal signs failure to thrive feeding difficulties, poor feeding hearing defect, deafness hyperammonemia hypertonia, spasticity hypoglycemia hypotonia infections (severe or recurrent) intellectual disability/intellectual developmental disorder lactic acidosis Leigh syndrome liver involvement or dysfunction mental retardation microcephaly (<2 SD for age) motor retardation MRI, brain, abnormalities [-] myoclonus onset, childhood onset, infancy optic atrophy psychomotor retardation seizures