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Summary
BENIGN INFANTILE MITOCHONDRIAL MYOPATHY AND CARDIOMYOPATHY (BIMC)
unknown
rare
autosomal recessive
more severe variant of BIMM (OMIM 500009)?
symptoms
cardiomyopathy
early death
hypotonia
lactic acidosis
metabolic acidosis
muscle weakness
onset, newborn
respiratory distress
laboratory finding
Lactate 0.901.80increasedblood
Complex I activity 100.00decreased activitymuscle
Literature
Thony Bet al.Mutations in the pterin-4alpha-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemiaHum Genet1032162-1671998
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Kelley RIKratz L3-methylglutaconic acidemia in Smith-Lemli-Opitz syndrome Pediatr Res375671-6741995