Nutrition management of congenital glucose-galactose malabsorption: Case report of a Chinese infant.

ABSTRACT:

Rationale

Congenital glucose-galactose malabsorption (CGGM) is a rare, autosomal recessive, hereditary disease that usuallypresents in newborns. CGGM manifests as severe diarrhea, hyperosmolar dehydration, and malnutrition. It does not respond to routine treatment and often is life-threatening.

Patient concerns

We described a Chinese infant girl with refractory diarrhea, who suffered from severe dehydration and malnutrition even if with fluid replacement therapy and fed with several special formulas.

Diagnoses

The genetic analysis identified CGGM with SLC5A1 mutations. c.1436G > C (p.R479T) was a novel mutation.

Interventions

The patient was managed by free-glucose and galactose formula, and then special low-carbohydrate dietary therapy.

Outcomes

The pat

SUBMITTER: Ma M 

PROVIDER: S-EPMC6831416 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature