Homozygot mutation i intrinsic factor-genet hos et barn med svær vitamin B 12-mangel

Tina Lund Leunbach; Preben Johansen; Stephan M Tanner; Ralph Gräsbeck; Jon Helgestad

Homozygot mutation i intrinsic factor-genet hos et barn med svær vitamin B 12-mangel

Tina Lund Leunbach, Preben Johansen, Stephan M Tanner, Ralph Gräsbeck, Jon Helgestad

Research output: Contribution to journal › Journal article › Research › peer-review

Abstract

A 28 month-old boy was hospitalized with pallor and weight stagnation. He had macrocytic anaemia and pancytopenia due to cobalamin deficiency and a rare homozygous mutation in the intrinsic factor gene. His sister showed similar symptoms at the age of 15 months. The heterozygous father had no symptoms, but did have a low cobalamin level. Gastroscopy with biopsies showed no pathology. All were given monthly cyanocobalamin injections which, however, caused leg cramps. Replacement with monthly hydroxocobalamin was successful.

Original language	Danish
Volume	173
Pages (from-to)	2047-8
Number of pages	2
ISSN	0041-5782
Publication status	Published - 22 Aug 2011
Externally published	Yes

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Cite this

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title = "Homozygot mutation i intrinsic factor-genet hos et barn med sv{\ae}r vitamin B 12-mangel",

abstract = "A 28 month-old boy was hospitalized with pallor and weight stagnation. He had macrocytic anaemia and pancytopenia due to cobalamin deficiency and a rare homozygous mutation in the intrinsic factor gene. His sister showed similar symptoms at the age of 15 months. The heterozygous father had no symptoms, but did have a low cobalamin level. Gastroscopy with biopsies showed no pathology. All were given monthly cyanocobalamin injections which, however, caused leg cramps. Replacement with monthly hydroxocobalamin was successful.",

author = "Leunbach, \{Tina Lund\} and Preben Johansen and Tanner, \{Stephan M\} and Ralph Gr{\"a}sbeck and Jon Helgestad",

year = "2011",

month = aug,

day = "22",

language = "Dansk",

volume = "173",

pages = "2047--8",

issn = "0041-5782",

publisher = "Almindelige Danske Laegeforening",

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TY - JOUR

T1 - Homozygot mutation i intrinsic factor-genet hos et barn med svær vitamin B 12-mangel

AU - Leunbach, Tina Lund

AU - Johansen, Preben

AU - Tanner, Stephan M

AU - Gräsbeck, Ralph

AU - Helgestad, Jon

PY - 2011/8/22

Y1 - 2011/8/22

N2 - A 28 month-old boy was hospitalized with pallor and weight stagnation. He had macrocytic anaemia and pancytopenia due to cobalamin deficiency and a rare homozygous mutation in the intrinsic factor gene. His sister showed similar symptoms at the age of 15 months. The heterozygous father had no symptoms, but did have a low cobalamin level. Gastroscopy with biopsies showed no pathology. All were given monthly cyanocobalamin injections which, however, caused leg cramps. Replacement with monthly hydroxocobalamin was successful.

AB - A 28 month-old boy was hospitalized with pallor and weight stagnation. He had macrocytic anaemia and pancytopenia due to cobalamin deficiency and a rare homozygous mutation in the intrinsic factor gene. His sister showed similar symptoms at the age of 15 months. The heterozygous father had no symptoms, but did have a low cobalamin level. Gastroscopy with biopsies showed no pathology. All were given monthly cyanocobalamin injections which, however, caused leg cramps. Replacement with monthly hydroxocobalamin was successful.

M3 - Tidsskriftartikel

SN - 0041-5782

VL - 173

SP - 2047

EP - 2048

ER -