Cobalamin F disease detected by newborn screening and follow-up on a 14-year-old patient

Olajumoke Oladipo, David S. Rosenblatt, David Watkins, Isabelle Racine Miousse, Laurie Sprietsma, Dennis J. Dietzen, Marwan Shinawi

Research output: Contribution to journalArticle

10 Citations (Scopus)

Abstract

The cobalamin F (cblF) defect is caused by disturbed lysosomal release of cobalamin (vitamin B12) into the cytoplasm caused by mutations in the LMBRD1 gene. We present the clinical and biochemical characterization of a patient with newly diagnosed cblF disease and a follow-up on a 14-year-old patient. The new patient presented with elevation of propionyl carnitine found on a newborn screen. The patient was small for gestational age, exhibited dysmorphic features and mild developmental delay, and had trigonocephaly and ventricular septal defect. There was biochemical normalization and clinical improvement within 3 weeks of parenteral cobalamin treatment. The other patient presented at 4 weeks of life with failure to thrive and feeding difficulties. She was treated only with monthly cyanocobalamin shots. The patient has never experienced metabolic decompensation. She had short stature and was an average student with no behavioral concerns. Her metabolic derangements normalized after switching to weekly hydroxycobalamin. The available data on 14 patients with confirmed cblF disease suggest variability in age of onset, presenting symptoms, response to treatment, and long-term complications. Common clinical findings include small for gestational age, feeding difficulties, growth failure, and developmental delays. Some patients have congenital heart defects, dysmorphic features, and other congenital anomalies.

Original languageEnglish (US)
JournalPediatrics
Volume128
Issue number6
DOIs
StatePublished - Dec 1 2011

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Newborn Infant
Vitamin B 12
propionylcarnitine
Gestational Age
Hydroxocobalamin
Craniosynostoses
Failure to Thrive
Congenital Heart Defects
CblF Type Methylmalonic Aciduria and Homocystinuria
Ventricular Heart Septal Defects
Age of Onset
Cytoplasm
Students
Mutation
Therapeutics
Growth
Genes

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health

Cite this

Oladipo, O., Rosenblatt, D. S., Watkins, D., Miousse, I. R., Sprietsma, L., Dietzen, D. J., & Shinawi, M. (2011). Cobalamin F disease detected by newborn screening and follow-up on a 14-year-old patient. Pediatrics, 128(6). https://doi.org/10.1542/peds.2010-3518
Oladipo, Olajumoke ; Rosenblatt, David S. ; Watkins, David ; Miousse, Isabelle Racine ; Sprietsma, Laurie ; Dietzen, Dennis J. ; Shinawi, Marwan. / Cobalamin F disease detected by newborn screening and follow-up on a 14-year-old patient. In: Pediatrics. 2011 ; Vol. 128, No. 6.
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Oladipo, O, Rosenblatt, DS, Watkins, D, Miousse, IR, Sprietsma, L, Dietzen, DJ & Shinawi, M 2011, 'Cobalamin F disease detected by newborn screening and follow-up on a 14-year-old patient', Pediatrics, vol. 128, no. 6. https://doi.org/10.1542/peds.2010-3518

Cobalamin F disease detected by newborn screening and follow-up on a 14-year-old patient. / Oladipo, Olajumoke; Rosenblatt, David S.; Watkins, David; Miousse, Isabelle Racine; Sprietsma, Laurie; Dietzen, Dennis J.; Shinawi, Marwan.

In: Pediatrics, Vol. 128, No. 6, 01.12.2011.

Research output: Contribution to journalArticle

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AU - Oladipo, Olajumoke

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AU - Sprietsma, Laurie

AU - Dietzen, Dennis J.

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