Dataset Information

Congenital Glucose-Galactose Malabsorption: A Case With a Novel SLC5A1 Mutation in a Saudi Infant.

ABSTRACT: While only a few hundred cases have been reported in pediatrics, congenital glucose-galactose malabsorption (GGM) is an extremely rare autosomal-recessive metabolic disorder that is characterized by intractable diarrhea and severe dehydration, which can be life-threatening if not treated appropriately. Due to the rarity of the disease, it is challenging to consider GGM as an initial diagnosis for most clinicians. We report the clinical and diagnostic course of a seven-month-old Saudi infant who presented with severe recurrent episodes of watery diarrhea and failure to thrive in early infancy despite standard treatment. Molecular testing identified that our patient had a compound heterozygous variant in SLC5A1. Fructose-based formulae have been proven to be effective in treating GGM. This case highlights the importance of early diagnosis and timely management to prevent serious complications of undiagnosed GGM.

SUBMITTER: Alamoudi LO

PROVIDER: S-EPMC8559579 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature

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Congenital Glucose-Galactose Malabsorption: A Case With a Novel SLC5A1 Mutation in a Saudi Infant.

Alamoudi Loujen O LO Alfaraidi Albaraa T AT Althagafi Samiyah S SS Al-Thaqafy Majid S MS Hasosah Mohammed M

Cureus 20211002 10

While only a few hundred cases have been reported in pediatrics, congenital glucose-galactose malabsorption (GGM) is an extremely rare autosomal-recessive metabolic disorder that is characterized by intractable diarrhea and severe dehydration, which can be life-threatening if not treated appropriately. Due to the rarity of the disease, it is challenging to consider GGM as an initial diagnosis for most clinicians. We report the clinical and diagnostic course of a seven-month-old Saudi infant who ...[more]

PMID: 34737908

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Project description:IntroductionCongenital glucose-galactose malabsorption (CGGM) is a rare autosomal recessive disorder that primarily causes chronic intractable diarrhea. This study aims to describe the clinical history, laboratory profile, diagnostic workflow, and management of the first patient reported with CGGM in Mexico.MethodsThe case involves a Mexican female infant with recurrent admissions to the emergency room since birth due to chronic diarrhea.ResultsThe infant was born at term by C-section with a birth weight of 3.120 kg and height of 48 cm for consanguineous parents. She had been breastfed until day 5 of her life when she presented lethargy, diarrhea, abdominal discomfort, and jaundice. During the first evaluation at the emergency room, the significant laboratory finding was blood tyrosine elevation; afterward, amino acid and succinylacetone determinations were obtained, discarding tyrosinemia. When admitted to the hospital, an abdominal ultrasound detected a duplex collecting system. At this time, rice formula was introduced to the patient. She was discharged with jaundice improvement, but diarrhea persisted. Several formula changes had been made from rice to extensively hydrolyzed casein protein to whey-based, with no clinical improvement; the patient still had 10-12 excretions daily. In the second hospitalization, the patient presented anemia, severe dehydration, hyperammonemia, and renal tubular acidosis. A next-generation sequencing panel for inborn errors of metabolism and congenital diarrhea was performed, identifying a homozygous variant in SLC5A1 (c.1667T > C). The diagnosis of CGGM was made at 3 months of age. The infant was initially treated with a modular galactose-glucose-free formula with oil, fructose, casein, minerals, and vitamins until a commercial fructose-based formula was introduced. This led to a complete resolution of diarrhea and improved nutritional status.DiscussionDiagnosing CGGM is challenging for clinicians, and next-generation sequencing is a valuable tool for providing appropriate treatment. More detailed information on patients with this condition might lead to possible phenotype-genotype correlations. This case's primary clinical and biochemical findings were chronic diarrhea, anemia, jaundice, renal tubular acidosis, hyperammonemia, and initial hypertyrosinemia. Symptoms were resolved entirely with the fructose-based formula.

Dataset Information

Congenital Glucose-Galactose Malabsorption: A Case With a Novel SLC5A1 Mutation in a Saudi Infant.

Publications

Congenital Glucose-Galactose Malabsorption: A Case With a Novel SLC5A1 Mutation in a Saudi Infant.

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