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PP-050 Carnitine palmitoyltransferase I deficiency case reporting in Krasnodar region
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  1. Natalia Shatokhina1,
  2. Sergei Boykov1,
  3. Elena Balyanova1,
  4. Svetlana Matulevich2,
  5. Polina Lashevich2
  1. 1GBUZ DKKB
  2. 2Scientific Research Institute – Professor S.V. Ochapovsky Regional Clinical Hospital No. 1

Abstract

Aim This article reports case of carnitine palmitoyltransferase I deficiency, first identified in Krasnodar region as part of extended neonatal screening.

Material and Method Clinical observation.

Results Male infant, born in 2023 in closely related marriage (parents are cousins). It was his mother’s 3rd pregnancy (1st – healthy girl, 2nd – frozen pregnancy, 3rd – current). 2 of deliveries were urgent surgical. Birthweight 3520 g, body length at birth 54 cm, Apgar score: 8/9. Type of nutrition - breastfeeding. TMS revealed changes – C0 increase, C18:1, C18:2 decrease. Such changes may be typical for carnitine palmitoyltransferase I deficiency. Confirmatory tests revealed previously undescribed nucleotide sequence in exon 11 of CPT1A gene variant(chr11:68549409A>T) in homo/hemizygous state, causing premature terminating codon to appear (NM_001876.:c.1182T>A (p.Cys394*)). Detected nucleotide sequence variant isn’t registered in Genome Aggregation Database control sample(gnomAD v2.1.1). ACMG criteria consider this variant as probably pathogenic. Variants in homozygous and compound heterozygous CPT1A gene were described in patients with CPT deficiency, hepatic, type IA (OMIM:255120). At age of 1,5 months infant’s mother didn’t complain during examination, no somatic and laboratory changes were found. The infant’s feeding started with specialized product for infants from birth and adult patients with long-chain fatty acids oxidation defects, chylothorax and lymphangiectasia, due to which TMS tested carnitine levels normalized. Later patient’s mother canceled low-fat formula by her own for 2 months and resumed breastfeeding, which resulted in excessive weight gain, increased liver size, cytolysis syndrome up to 2 norms, hyperammonemia, increased CK at 3,5 months age. Hypoglycemia symptoms weren’t detected. TMS dynamics showed more than 2 norms increased carnitine level, increased C0/C18 acylcarnitine ratio. Low-fat formula resumption led to laboratory parameters normalization within 3 days.

Conclusions Our observation showed necessity of early low-fat diet initiation and parents education, which should minimize risk of complications and timely consultation of families for offspring genetic risk assessment.

  • Carnitine palmitoyltransferase I deficiency
  • low-fat formula

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