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Summary
BENIGN INFANTILE MITOCHONDRIAL MYOPATHY AND CARDIOMYOPATHY (BIMC)
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unknown
rare
autosomal recessive
more severe variant of BIMM (OMIM 500009)?
symptoms
cardiomyopathy
early death
hypotonia
lactic acidosis
metabolic acidosis
muscle weakness
onset, neonatal
respiratory distress
laboratory finding
L-Lactic acid 0.901.80mmol/lblood
Complex I activity 100.00activitymuscleno data
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