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Summary
3-METHYLGLUTACONIC ACIDURIA (TYPE II), X-LINKED
BARTH SYNDROMEMGCA2BTHS
302060
OMIM = Online Medalian Inheritance of Men
111
Xp28
  • L-carnitine
  • panthotenic acid
rare (>20 male patients)
X-linked
cardiac-specific loss of succinate dehydrogenase (SDH), an enzyme
linking the respiratory chain with the tricarboxylic acid cycle [Dudek J et al. 2015]
symptoms
cardiac arrhythmia, dysrhythmia
cardiomegaly
cardiomyopathy
chorea or athetosis
dysmorphism
early death
failure to thrive
feeding difficulties, poor feeding
growth retardation
hearing defect, deafness
hypertonia, spasticity
hypothermia
hypotonia
infections (local, abscesses)
infections (severe or recurrent)
lactic acidosis
myopathy
neutropenia (decreased neutrophils)
onset, adolescent
onset, adulthood
onset, childhood
onset, infancy
onset, neonatal
optic atrophy
Organic acids, urine
seizures
laboratory finding
3-Methylglutaconic acid25.00600.000.009.00mmol/mol creatinineurine
3-Methylglutaric acid10.0085.000.007.00mmol/mol creatinineurine
Succinic acid 5.3046.30increasedurine
2-Ethylhydracrylic acid2.0033.000.0020.00mmol/mol creatinineurine
L-Lactic acid1.006.000.901.80mmol/lblood
pH7.007.407.357.45no unitblood
Pyruvic acid0.100.3027.00160.00-Ámol/lblood
Cholesterol0.000.003.105.20normal-decreasedserumchild
CT, brain, abnormalities -
EEG abnormalities -
Carnitine0.000.0023.0060.00normal-decreasedplasmachild
Cardiolipin profile0.000.00 urine
Ammonia0.000.00 normal-increasedbloodall
Uric acid0.000.00 normal-increasedplasmaall
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