Increased creatine demand during pregnancy in Arginine: Glycine Amidino-Transferase deficiency: a case report
- PDF / 479,343 Bytes
- 5 Pages / 595.276 x 790.866 pts Page_size
- 103 Downloads / 153 Views
(2020) 20:506
CASE REPORT
Open Access
Increased creatine demand during pregnancy in Arginine: Glycine AmidinoTransferase deficiency: a case report Maria Grazia Alessandrì1*, Francesca Strigini2, Giovanni Cioni1,2 and Roberta Battini1,2
Abstract Background: Creatine (Cr), an amino acid derivative, is one of the most important sources of energy acting as both a spatial and temporal energy buffer through its phosphorylated analogue phosphocreatine (PCr) and creatine kinase (CK). Maternal Cr biosynthesis and metabolism seem to play an important role in pregnancy, as shown in preclinical and in healthy human pregnancy studies. Patients with Arginine:Glycine Amidino-Transferase deficiency (AGAT-d), due to the deficit of the first enzyme involved in Cr synthesis, are at a disadvantage due to their failure to synthesize Cr and their dependence on external intake, in contrast to normal subjects, where changes in Cr biosynthesis supply their needs. We report the outcomes of a pregnancy in an AGAT-d woman, and the challenge we faced in managing her treatment with oral Cr to ensure optimal conditions for her fetus. Case presentation: A 22-year-old AGAT-d woman referred to our Institute for the management of her first conception at 11 weeks of fetal gestational age. Sonographic monitoring at 20 w GA indicated a reduction of fetal growth, in particular of the head circumference that was below the 3rd centile. Biochemical monitoring of Cr in biological fluids of the mother revealed a decline of the Cr concentrations, in particular in the urine sample, requiring prompt correction of the Cr dose. At 35 weeks of gestation the patient delivered a male infant, heterozygous for GATM mutation, with normal brain Cr levels; at one year the baby achieved typical developmental milestones. Conclusions: This rare pregnancy demonstrates that Cr levels in the blood and urine of the mother with AGAT-d decreased since the first months of gestation. The increase of the Cr daily dose administered to the mother seems to have produced beneficial effects also on the fetus. Keywords: Creatine deficiency, AGAT, Pregnancy
1. Background Cr is synthesized in a two-step reaction, where the ratelimiting step is the Arginine: Glycine AmidinoTransferase (AGAT) reaction to form guanidinoacetic acid (GAA) from arginine and glycine; GAA is quickly converted to Cr by guanidinoacetate methyltransferase * Correspondence: [email protected] 1 Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Via dei Giacinti 2, 56128 Calambrone - Pisa, Italy Full list of author information is available at the end of the article
(GAMT). AGAT deficiency (AGAT-d; MIM 602,360) causes the rarest inborn error of Cr deficiency syndromes [1, 2]. Chronic Cr supplementation at various dosages, ranging from 100 mg/Kg/day to 800 mg/Kg/ day, restored brain Cr in all patients diagnosed so far and improved cognitive development and other clinical symptoms [2]. Cr, an amino acid derivative, is one of the most important sources of energy due to its primary function
Data Loading...
