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Home / Equine Research Bank / J Equine Sci / Metabolic, pathological, and genetic analyses of foals neona...
Journal of equine science2025; 36(2); 55-65; doi: 10.1294/jes.36.55

Metabolic, pathological, and genetic analyses of foals neonatal foals that died in Noma horses.

Abstract: We evaluated metabolic abnormalities in six neonatal Noma foals (Nos. 54-57, 62, and 66) that died shortly after birth, using laboratory tests, pathological examinations, serum amino acid (AA) analyses, gas chromatography/mass spectrometry (GC/MS), and genetic analyses. Nonspecific clinical symptoms, such as poor suckling and weakness, were commonly observed at birth. Sepsis caused by various bacterial infections was detected in foal Nos. 54, 62, and 66, while a heart malformation was identified in foal No. 57. Laboratory tests showed high aspartate transaminase, lactate dehydrogenase, and creatine kinase levels and low globulin and glucose levels in dead foals. The AA and GC/MS analyses revealed elevated levels of ammonia, orotic acid, and uracil in foal Nos. 54 and 55, while citrulline, arginine, and ornithine levels were low or within normal ranges, suggesting accelerated pyrimidine synthesis and suppressed urea cycle activity. Foal No. 56 had high uric acid and tyrosine levels, hypoglycemia, and liver dysfunction, suggesting glycogen storage disease. In foal No. 57, hypertyrosinemia was suggested because of high phenylalanine and tyrosine levels. We conducted a sequencing analysis of the ornithine transcarbamylase, argininosuccinatelyase, argininosuccinate synthase 1, uridine monophosphate synthase, G6PC1, and G6PT1/SLC37A4 genes associated with metabolic disorders. However, no mutations were detected. In conclusion, although metabolic pathways abnormalities resembling certain hereditary metabolic disorders were observed in neonatal foals that died in Noma horses, no specific mutations were identified in candidate genes, making hereditary disorders less likely.
©2025 The Japanese Society of Equine Science.
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Publication Date: 2025-06-12 PubMed ID: 40832002PubMed Central: PMC12360156DOI: 10.1294/jes.36.55Google Scholar: Lookup
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Summary

This research summary has been generated with artificial intelligence and may contain errors and omissions. Refer to the original study to confirm details provided. Submit correction.

Metabolic, pathological, and genetic analyses of neonatal foals that died in Noma horses were conducted to investigate possible causes of death related to metabolic abnormalities and genetic disorders. The study found metabolic dysfunctions and pathological abnormalities but no mutations in genes commonly associated with hereditary metabolic diseases.

Study Overview

  • Researchers studied six neonatal Noma foals (Nos. 54-57, 62, and 66) that died shortly after birth to understand the underlying causes of mortality.
  • The evaluation involved laboratory tests, pathological examinations, serum amino acid analyses, gas chromatography/mass spectrometry (GC/MS), and genetic sequencing.

Clinical and Pathological Findings

  • Nonspecific symptoms such as poor suckling and weakness were commonly reported at birth across the foals.
  • Sepsis due to bacterial infections was confirmed in foals Nos. 54, 62, and 66, indicating infectious causes contributed to mortality.
  • Foal No. 57 had a congenital heart malformation, contributing to illness and death.

Laboratory Test Results

  • Elevated enzyme levels: aspartate transaminase (AST), lactate dehydrogenase (LDH), and creatine kinase (CK), which indicate tissue damage or metabolic stress.
  • Reduced levels of globulin and glucose in deceased foals, suggesting immune dysfunction and energy metabolism impairment.

Metabolic Profiling (Amino Acid and GC/MS Analyses)

  • Foals Nos. 54 and 55 showed increased ammonia, orotic acid, and uracil, markers associated with disrupted nitrogen metabolism and pyrimidine synthesis.
  • Low or normal levels of citrulline, arginine, and ornithine suggested decreased urea cycle activity, which can lead to ammonia buildup.
  • Foal No. 56 exhibited high uric acid and tyrosine levels, along with hypoglycemia and liver function abnormalities, indicative of glycogen storage disease.
  • Foal No. 57 had hypertyrosinemia, inferred from elevated phenylalanine and tyrosine, potentially reflecting a metabolic liver disorder.

Genetic Analysis

  • The study sequenced key genes related to metabolic disorders: ornithine transcarbamylase (OTC), argininosuccinate lyase (ASL), argininosuccinate synthase 1 (ASS1), uridine monophosphate synthase (UMPS), glucose-6-phosphatase (G6PC1), and glucose-6-phosphate transporter (G6PT1/SLC37A4).
  • No mutations were detected in these genes from the neonatal foals, indicating a lack of identifiable hereditary defects in these candidate genes.

Conclusions and Implications

  • The metabolic abnormalities found bear resemblance to inherited metabolic disorders in other species, such as urea cycle defects and glycogen storage diseases.
  • Despite metabolic and clinical signs suggesting inherited diseases, the absence of mutations in the tested genes led researchers to conclude that hereditary causes are less likely.
  • The findings highlight that neonatal foal mortality in Noma horses may result from complex, possibly multifactorial causes, including infection, congenital anomalies, and non-hereditary metabolic dysfunction.
  • Further research may be needed to identify other genetic factors or environmental contributors to metabolic failure in these foals.

Cite This Article

APA
Hisaeda K, LE NAT, Kadekaru S, Ono T, Hiasa Y, Ohzawa E, Hata A, Kutara K, Sugimoto K, Une Y, Iwata E, Kunieda T, Zhang C, Kitagawa H. (2025). Metabolic, pathological, and genetic analyses of foals neonatal foals that died in Noma horses. J Equine Sci, 36(2), 55-65. https://doi.org/10.1294/jes.36.55

Publication

Journal of equine science
ISSN: 1340-3516
NlmUniqueID: 9503751
Country: Japan
Language: English
Volume: 36
Issue: 2
Pages: 55-65

Researcher Affiliations

Hisaeda, Keiichi
  • Faculty of Veterinary Medicine, Okayama University of Science, 1-3 Ikoi-no-oka, Imabari, Ehime 794-8555, Japan.
LE, Nu Anh Thu
  • Faculty of Veterinary Medicine, Okayama University of Science, 1-3 Ikoi-no-oka, Imabari, Ehime 794-8555, Japan.
  • Faculty of Animal Science and Veterinary Medicine, University of Agriculture and Forestry, Hue University, 03 Le Loi Street, Hue 530000, Vietnam.
Kadekaru, Sho
  • Faculty of Veterinary Medicine, Okayama University of Science, 1-3 Ikoi-no-oka, Imabari, Ehime 794-8555, Japan.
  • Biomedical Science Examination and Research Center, Okayama University of Science, 1-3 Ikoi-no-oka, Imabari, Ehime 794-8555, Japan.
Ono, Tetsushi
  • Faculty of Veterinary Medicine, Okayama University of Science, 1-3 Ikoi-no-oka, Imabari, Ehime 794-8555, Japan.
  • Joint Faculty of Veterinary Medicine, Yamaguchi University, 1677-1 Yoshida, Yamaguchi 753-8515, Japan.
Hiasa, Yasuharu
  • Hiasa Animal Clinic, 2-6-8 Koushouji, Imabari, Ehime 794-0805, Japan.
Ohzawa, Emi
  • Noma Horse Preservation Society, 8 Nomakou, Imabari, Ehime 794-0082, Japan.
Hata, Akihisa
  • Faculty of Veterinary Medicine, Okayama University of Science, 1-3 Ikoi-no-oka, Imabari, Ehime 794-8555, Japan.
  • Biomedical Science Examination and Research Center, Okayama University of Science, 1-3 Ikoi-no-oka, Imabari, Ehime 794-8555, Japan.
Kutara, Kenji
  • Faculty of Veterinary Medicine, Okayama University of Science, 1-3 Ikoi-no-oka, Imabari, Ehime 794-8555, Japan.
Sugimoto, Keisuke
  • Faculty of Veterinary Medicine, Okayama University of Science, 1-3 Ikoi-no-oka, Imabari, Ehime 794-8555, Japan.
Une, Yumi
  • Faculty of Veterinary Medicine, Okayama University of Science, 1-3 Ikoi-no-oka, Imabari, Ehime 794-8555, Japan.
  • Biomedical Science Examination and Research Center, Okayama University of Science, 1-3 Ikoi-no-oka, Imabari, Ehime 794-8555, Japan.
Iwata, Eri
  • Faculty of Veterinary Medicine, Okayama University of Science, 1-3 Ikoi-no-oka, Imabari, Ehime 794-8555, Japan.
Kunieda, Tetsuo
  • Faculty of Veterinary Medicine, Okayama University of Science, 1-3 Ikoi-no-oka, Imabari, Ehime 794-8555, Japan.
  • Graduate School of Environmental, Life, Natural Science and Technology, Okayama University, 1-1-1 Tsushimanaka, Kita-ku, Okayama 700-8530, Japan.
Zhang, Chunhua
  • MILS International, 2-2-3 Shin-Yokohama, Kohoku, Yokohama 222-0033, Japan.
Kitagawa, Hitoshi
  • Faculty of Veterinary Medicine, Okayama University of Science, 1-3 Ikoi-no-oka, Imabari, Ehime 794-8555, Japan.
  • Gifu University Institute for Advanced Study, Gifu University, 1-1 Yanagido, Gifu 501-1193, Japan.

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