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Literature DB >> 22082743

Juvenile cobalamin deficiency in a 17-year-old child with autonomic dysfunction and skin changes.

Abdul Hafeez Siddiqui¹, Aamir Ansari, Cameron M Beech, Nidhi P Shah, Stephan M Tanner, Sharada A Sarnaik.

Abstract

We report a rare case of juvenile cobalamin deficiency who presented at the age of 17 years. He was underweight and had skin changes, normocytic anemia, and autonomic dysfunction, which led to adynamic ileus and acute postrenal failure. The expected macrocytosis was masked by an underlying alpha-thalassemia trait. The patient had an excellent response to parenteral cobalamin treatment.

Entities: Chemical Disease Gene Species

Mesh：

Substances：
Vitamin B 12

Year: 2012 PMID： 22082743 PMCID： PMC3302209 DOI： 10.1097/MPH.0b013e3182288249

Source DB: PubMed Journal: J Pediatr Hematol Oncol ISSN： 1077-4114 Impact factor: 1.289

15 in total

1. Generalized hyperpigmentation of the skin due to vitamin B12 deficiency.

Authors: K Mori; I Ando; A Kukita
Journal: J Dermatol Date: 2001-05 Impact factor: 4.005

2. B12 deficient megaloblastic anemia in a toddler with a history of gastroschisis.

Authors: Amanda F Marsch; Harohalli Shashidhar; John A D'Orazio
Journal: J Pediatr Date: 2010-10-18 Impact factor: 4.406

3. A child with vitamin B12 deficiency presenting with pancytopenia and hyperpigmentation.

Authors: Ozlem Pelin Simşek; Nazli Gönç; Fatma Gümrük; Mualla Cetin
Journal: J Pediatr Hematol Oncol Date: 2004-12 Impact factor: 1.289

4. Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1.

Authors: M Aminoff; J E Carter; R B Chadwick; C Johnson; R Gräsbeck; M A Abdelaal; H Broch; L B Jenner; P J Verroust; S K Moestrup; A de la Chapelle; R Krahe
Journal: Nat Genet Date: 1999-03 Impact factor: 38.330

5. Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene.

Authors: Stephan M Tanner; Zhongyuan Li; James D Perko; Cihan Oner; Mualla Cetin; Cigdem Altay; Zekiye Yurtsever; Karen L David; Laurence Faivre; Essam A Ismail; Ralph Gräsbeck; Albert de la Chapelle
Journal: Proc Natl Acad Sci U S A Date: 2005-02-28 Impact factor: 11.205

Juvenile cobalamin deficiency in a 17-year-old child with autonomic dysfunction and skin changes.

1. Generalized hyperpigmentation of the skin due to vitamin B12 deficiency.

2. B12 deficient megaloblastic anemia in a toddler with a history of gastroschisis.

3. A child with vitamin B12 deficiency presenting with pancytopenia and hyperpigmentation.

4. Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1.

5. Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene.

6. Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia.

Review 7. Acquired and inherited disorders of cobalamin and folate in children.

8. The functional cobalamin (vitamin B12)-intrinsic factor receptor is a novel complex of cubilin and amnionless.

9. Persistence of neutrophil hypersegmentation during recovery from megaloblastic granulopoiesis.

Review 10. Improved outcomes in the treatment of gastroschisis using a preformed silo and delayed repair approach.

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