Primary pyruvate dehydrogenase E3 binding protein deficiency with mild hyperlactataemia and hyperalaninaemia

I P Hargreaves; S J R Heales; A Briddon; P J Lee; M G Hanna; J M Land

doi:10.1023/a:1025181512847

Primary pyruvate dehydrogenase E3 binding protein deficiency with mild hyperlactataemia and hyperalaninaemia

J Inherit Metab Dis. 2003;26(5):505-6. doi: 10.1023/a:1025181512847.

Authors

I P Hargreaves¹, S J R Heales, A Briddon, P J Lee, M G Hanna, J M Land

Affiliation

¹ Neurometabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK. ihargrea@ion.ucl.ac.uk

PMID: 14518830
DOI: 10.1023/a:1025181512847

Abstract

A case of pyruvate dehydrogenase E3 binding protein deficiency is reported in a 24-year-old male with encephalomyopathy. Blood lactate was only minimally elevated, as was alanine.

Publication types

Case Reports

MeSH terms

Adult
Alanine / blood*
Humans
Lactic Acid / blood*
Male
Peptides / deficiency*
Pyruvate Dehydrogenase Complex

Substances

PDHX protein, human
Peptides
Pyruvate Dehydrogenase Complex
Lactic Acid
Alanine