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Summary
MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY (MPYCD)
614741
OMIM = Online Medalian Inheritance of Men
447784
6q27
very rare
autosomal recessive
mutation in the BRP44L gene
symptoms
abnormal movement
developmental delay
dysmorphism
encephalopathy
epicanthus or medial eyelid fold
hepatomegaly (large liver)
hypoglycemia
hypotonia
inverted nipples
lactic acidosis
long, broad, prominent philtrum
microcephaly (<2 SD for age)
nystagmus
onset, neonatal
peripheral neuropathy
respiratory distress
seizures
laboratory finding
L-Lactic acid increasedserum
Pyruvic acid increasedserum
Lactate/Pyruvate ratio normalserum
Literature
Singh PM1,Borle A, Trikha ADiagnostic dilemma: rare case of recurrent d-lactic acidosis leading to recurrent acute cardiac failureActa Anaesthesiol Taiwan51294-962013
Kowlgi NG,Chhabra LD-lactic acidosis: an underrecognized complication of short bowel syndromeGastroenterol Res Pract20154762152015
Takahashi K,et al.A stand-alone synbiotic treatment for the prevention of D-lactic acidosis in short bowel syndromeInt Surg982110-1132013
Dahlqvist G,et al.D-lactic acidosis: an unusual cause of encephalopathy in a patient with short bowel syndromeActa Clin Belg683229-2312013