Inherited Selective Intestinal Cobalamin Malabsorption and Cobalamin Deficiency in Dogs

Update of Food-Cobalamin Malabsorption and Oral Cobalamin Therapy

Cobalamin (vitamin B12) deficiency is particularly common in the elderly (>65 years of age), but is often unrecognized because its clinical manifestations are subtle; however, they are also potentially serious, particularly from a neuropsychiatric and hematological perspectives. In the general population, the main causes of cobalamin deficiency are pernicious anemia and food-cobalamin malabsorp...

Selective Intestinal Cobalamin Malabsorption with Proteinuria (Imerslund‐Gräsbeck Syndrome) in Juvenile Beagles

BACKGROUND Selective intestinal cobalamin malabsorption with mild proteinuria (Imerslund-Gräsbeck syndrome; I-GS), is an autosomal recessive disorder of dogs caused by mutations in AMN or CUBN that disrupt cubam function and which can present as a medical emergency. OBJECTIVES To describe the clinical, metabolic, and genetic bases of I-GS in Beagles. ANIMALS Four cobalamin-deficient and 43 ...

Diagnosis of cobalamin deficiency.

Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns

BACKGROUND Inherited malabsorption of cobalamin (Cbl) causes hematological and neurological abnormalities that can be fatal. Three genes have been implicated in Cbl malabsorption; yet, only about 10% of ~400-500 reported cases have been molecularly studied to date. Recessive mutations in CUBN or AMN cause Imerslund-Gräsbeck Syndrome (IGS), while recessive mutations in GIF cause Intrinsic Factor...

Cobalamin deficiency, hyperhomocysteinemia, and dementia

INTRODUCTION Although consensus guidelines recommend checking serum B12 in patients with dementia, clinicians are often faced with various questions: (1) Which patients should be tested? (2) What test should be ordered? (3) How are inferences made from such testing? (4) In addition to serum B12, should other tests be ordered? (5) Is B12 deficiency compatible with dementia of the Alzheimer's typ...