# Selective Screening of Children for Hereditary Metabolic Diseases by Tandem Mass Spectrometry in Kazakhstan

> **NCT05910151** · — · UNKNOWN · sponsor: **West Kazakhstan Medical University** · enrollment: 2250 (estimated)

## Conditions studied

- Propionic/Methylmalonic Acidemias
- Maple Syrup Urine Disease
- Citrullinemia
- Argininosuccinic Aciduria
- Ornithine Transcarbamylase Deficiency
- Carbamoyl Phosphate Synthetase I Deficiency
- N-acetylglutamate Synthase Deficiency
- Nonketotic Hyperglycinemia
- Tyrosinemia
- Homocystinuria
- Arginase Deficiency
- Isovaleric Acidemia
- Short/Branched Chain Acyl-CoA Dehydrogenase Deficiency
- Isobutyryl-CoA Dehydrogenase Deficiency
- Glutaric Acidemia Type I
- 3-methylcrotonyl-CoA Carboxylase Deficiency
- Biotinidase Deficiency
- Malonyl-CoA Decarboxylase Deficiency
- Beta-ketothiolase Deficiency
- 3-hydroxy-3-methylglutaryl-CoA Lyase Deficiency
- 3-methylglutaconyl-CoA Hydratase Deficiency
- Medium-chain Acyl-CoA Dehydrogenase Deficiency
- Very Long-chain Acyl-CoA Dehydrogenase Deficiency
- Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency
- Glutaric Acidemia Type II
- Primary Carnitine Deficiency
- Carnitine Palmitoyltransferase I Deficiency
- Carnitine Palmitoyltransferase II Deficiency
- Carnitine-acylcarnitine Translocase Deficiency

## Interventions

- **DIAGNOSTIC_TEST:** Obtaining Dry Blood Spots From Healthy Newborns (Aged 1-7 Days)
- **DIAGNOSTIC_TEST:** Obtaining Dry Blood Spots From Healthy Children Aged 8 Days - 7 Years
- **DIAGNOSTIC_TEST:** Obtaining Dry Blood Spots From Healthy Children Aged 8-18 Years
- **DIAGNOSTIC_TEST:** Obtaining Dry Blood Spots From High-risk Newborns (Aged 1-7 Days)
- **DIAGNOSTIC_TEST:** Obtaining Dry Blood Spots From High-risk childrens (Aged 8 Days- 7 years)
- **DIAGNOSTIC_TEST:** Obtaining Dry Blood Spots From High-risk childrens (Aged 8 - 18 years)

## Key facts

- **NCT ID:** NCT05910151
- **Lead sponsor:** West Kazakhstan Medical University
- **Sponsor class:** OTHER
- **Phase:** —
- **Study type:** OBSERVATIONAL
- **Status:** UNKNOWN
- **Start date:** 2022-10-03
- **Primary completion:** 2024-12-31
- **Final completion:** 2024-12-31
- **Target enrollment:** 2250 (ESTIMATED)
- **Last updated:** 2023-06-18


## Primary source

ClinicalTrials.gov registry: https://clinicaltrials.gov/study/NCT05910151

## Citation

> US National Library of Medicine, ClinicalTrials.gov registration NCT05910151, "Selective Screening of Children for Hereditary Metabolic Diseases by Tandem Mass Spectrometry in Kazakhstan". Retrieved via AI Analytics 2026-06-24 from https://api.ai-analytics.org/clinical/NCT05910151. Licensed CC0.

---

*[Clinical trials dataset](/datasets/clinical-trials) · CC0 1.0*