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PP-049 Methylmalonic acidemia in sibs: clinical case
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  1. Tatyana A Bairova,
  2. Galina P Bogonosova,
  3. Olga V Bugun,
  4. Aleksey V Belskikh,
  5. Tatjana A Astahova,
  6. Lyubov V Rychkova
  1. FSBI Scientific Center for Family Health and Human Reprodutcion Problems

Abstract

Aim Not aplicable for clinical cases.

Material and Method Clinical case.

Results «Methylmalonic acidemia’ refers to a group of inborn errors of metabolism associated with elevated methylmalonic acid (MMA) concentration in blood. We observed the family with two boys with MMA. Marriage is consanguineous. Mother had 3 pregnancies. The first pregnancy ended spontaneously. The woman had high risk of miscarriage during the second pregnancy. The boy birthed at 39–40 weeks. The birth weight was 3070 g, APGAR 6–7. The child began to suck poorly on the 2nd day. Measured concentrations of aminoacids was 1302 mkmol/l for Valin (3,6 times higher than normal), 1598 mkmol/l for Leucin (4,3 times higher), the concentration of C3 was 8 mkmol/l (also 2 times higher). Diagnostically MSUD was presumpted as main methabolic error. The child is assigned «Nutrigen 14» (-leu, -ile, -val). The child died at the 12th day of life, due to multiple organ failure. Рosthumously obtained the result of a urine test; measured concentration of MMA in urine was 6,292.14 mmol/mol CRE (normal range 0–2). Pathogenic mutation c.360dupT (p.Lys121fs) of the MMUT was identified. During the 3rd pregnancy, there was a high threat of miscarriage at 8 weeks of gestation. Same mutation of the MMUT was identified in the fetus in homozygous state. Childbirth at 40 weeks of pregnancy. Birth weight was 3390 g, APGAR 9–10. At the first day of life, the ammonia in the blood was normal. Measured concentration of C3 in blood was 15,9 mkmol/l (3 times higher than normal value) and level of MMA in urea was 1072,16 mmol/l (normal range 0–2 mmol/l). The child is assigned «Anamix infant MMA/RA», «Nutrigen 14 MMA/RA». Current child’s status: Age 5.5 months, weight 7340 g. Routine C3 blood level is 13.2 mkmol/l (normal range 0.13–6.8 mkmol/l), blood ammonia is 94 mkmol/l (normal range 21–50).

Conclusions Clinical case.

  • Methylmalonic acidemia
  • inborn errors of metabolism
  • sibs

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