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- Title
Metabolic Abnormalities Occur in the First Months of Life in Berardinelli-Seip Congenital Lipodystrophy Linked to AGPAT 2 Mutations.
- Authors
Tubiana-Rufi, Nadia; Ladjouze, Asmahane; Lascols, Oliver; Guilmin-Crepon, Sophie; Capeau, Jacqueline; Magre, Jocelyne
- Abstract
Berardinelli-Seip congenital lipodystrophy (BSCL) is a rare recessive disease characterized by the absence of adipose tissue and severe insulin resistance resulting in severe hypertriglyceridemia and eventually diabetes at puberty. We report for the first time, the occurrence of those metabolic abnormalities in the first months of life in 4 children affected by BSCL carrying mutations in AGPAT2. BSCL diagnosis was established in 1 girl and 3 boys of Caucasian (n=l) or African (n=3) origin at the age of 28 days, 2, 3 and 4.5 months. The first signs of the disease were generalized lipoatrophy (n=2), multiple adenopathies (n=1) and generalized xanthomatosis (n=1). All patients had generalized lipoatrophy, muscular hypertrophy, axial or peripheral hypertonia, hepatomegaly, left ventricular hypertrophy and hyperinsulinism. The length was normal at birth, but accelerated precociously leading to a mean length of +2.5 ± 0.37 SD at 6 months. These children presented severe alterations of the glucid and lipid metabolisms at the diagnosis of BSCL with permanent hyperglycemia (>25 mM/L) without ketosis (n=2), and/or hypertriglyceridemia (3.8-36 mM/L) (n=4). The Glucose and triglyceride levels recovered at the age of 8, 13, 16 and 24 months, with (n=3) or without (n=1) dietetic care. The 4 patients harbour a homozygous null mutation in AGPAT2: at the intron 4 acceptor splice site (IVS4-2A>G) (n=3), or in exon 2 (Arg 68X). Children affected by BSCL linked to AGPAT2 mutation have very early in life alterations of the glucido-lipidic metabolisms that must be detected. These alterations seemed to be transient (normalization before the age of 2 years), so the efficacy of the dietetic treatment could not be established. The acceleration of the growth velocity (as the one observed in puberty) may increase the metabolic demand leading to biological alterations. The follow up of our patients will elucidate if the early dietetic care yields changes for their metabolic prognosis.
- Subjects
METABOLIC disorders; ADIPOSE tissue diseases; DIABETES in children; CARBOHYDRATE metabolism; LIPID metabolism; HYPERGLYCEMIA
- Publication
Diabetes, 2007, Vol 56, pA701
- ISSN
0012-1797
- Publication type
Article