3-METHYLGLUTACONIC ACIDURIA (TYPE II), X-LINKED

Q: What is 3-METHYLGLUTACONIC ACIDURIA (TYPE II), X-LINKED?

rare (<1:200000) X-linked mutation in the tafazzin gene cardiac-specific loss of succinate dehydrogenase (SDH), an enzyme linking the respiratory chain with the tricarboxylic acid cycle [Dudek J et al. 2015]

Q: Gibt es eine deutsche Bezeichnung?

3-Methylglutaconazidurie Typ 2 (Barth-Syndrom)

Question 1

What is  3-METHYLGLUTACONIC ACIDURIA (TYPE II), X-LINKED?

Accepted Answer

rare (<1:200000)
X-linked
mutation in the tafazzin gene
cardiac-specific loss of succinate dehydrogenase (SDH), an enzyme linking the respiratory chain with the tricarboxylic acid cycle [Dudek J et al. 2015]

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

3-Methylglutaconazidurie Typ 2 (Barth-Syndrom)

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 302060

Question 4

Which enzymes are involved?

Accepted Answer

Tafazzin

Disease	3-METHYLGLUTACONIC ACIDURIA (TYPE II), X-LINKED
Synonym	BARTH SYNDROME;MGCA2;BTHS
OMIM	302060 OMIM = Online Mendelian Inheritance of Men
Orphanet	111
Protein (UniProt)	Tafazzin
Gene locus	Xp28
ICD	E71.1
Summary	rare (<1:200000) X-linked mutation in the tafazzin gene cardiac-specific loss of succinate dehydrogenase (SDH), an enzyme linking the respiratory chain with the tricarboxylic acid cycle [Dudek J et al. 2015]
Laboratory findings	2-Ethylhydracrylic acid normal/inc (urine) 3-Methylglutaconic acid inc (urine) 3-Methylglutaric acid inc (urine) Ammonia normal/inc (blood) Cardiolipin profile (urine) Cholesterol normal/dec (serum) L-Carnitine normal/dec (plasma) L-Lactic acid normal/inc (blood) pH normal/dec (blood) Pyruvic acid dec (blood) Succinic acid inc (urine) Uric acid normal/inc (plasma)
Symptoms	lactic acidosis cardiac arrhythmia, dysrhythmia cardiomegaly cardiomyopathy chorea or athetosis CT, brain, abnormalities [-] dysmorphism early death EEG abnormalities [-] failure to thrive feeding difficulties, poor feeding growth retardation, poor growth hearing defect, deafness hypertonia, spasticity hypothermia hypotonia infections (local, abscesses) infections (severe or recurrent) myopathy neutropenia (decreased neutrophils) onset, adolescent onset, adulthood onset, childhood onset, infancy onset, neonatal optic atrophy Organic acids, urine seizures