Malonic aciduria in Maltese dogs: normal methylmalonic acid concentrations and malonyl-CoA decarboxylase activity in fibroblasts.

Abstract:

:A family of Maltese dogs with malonic aciduria is reported. The propositus presented at 3 years of age with episodes of seizures and stupor with hypoglycaemia, acidosis, and ketonuria. Urinary organic acid assays showed elevated malonic acid without elevation of methylmalonic acid. Cultured fibroblasts had normal malonyl-CoA decarboxylase activity. Treatment with frequent feedings of a low-fat diet high in medium-chain triglycerides resulted in normalization of clinical signs and a resolution of the malonic aciduria. Two full siblings of the propositus had died at a young age of undiagnosed metabolic and neurological disease. Urine organic acid assays were performed on other family members. A half-sister showed mild malonic aciduria and other organic acid changes similar to the propositus, while the mother and half-brother showed mildly elevated ketone bodies. This family suggests further genetic and clinical heterogeneity in the malonic acidurias.

journal_name

J Inherit Metab Dis

authors

O'Brien DP,Barshop BA,Faunt KK,Johnson GC,Gibson KM,Shelton GD

doi

10.1023/a:1005635306257

keywords:

subject

Has Abstract

pub_date

1999-12-01 00:00:00

pages

883-90

issue

8

eissn

0141-8955

issn

1573-2665

journal_volume

22

pub_type

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