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Pyruvate dehydrogenase e1-beta deficiency(PDHBD)

MedGen UID:
357977
Concept ID:
C1867399
Disease or Syndrome
Synonyms: PDHBD
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
 
Gene: PDHB
Cytogenetic location: 3p14.3
OMIM: 179060; 614111

Definition

Pyruvate dehydrogenase deficiency is characterized by the buildup of a chemical called lactic acid in the body and a variety of neurological problems. Signs and symptoms of this condition usually first appear shortly after birth, and they can vary widely among affected individuals. The most common feature is a potentially life-threatening buildup of lactic acid (lactic acidosis), which can cause nausea, vomiting, severe breathing problems, and an abnormal heartbeat. People with pyruvate dehydrogenase deficiency usually have neurological problems as well. Most have delayed development of mental abilities and motor skills, such as sitting and walking. Other neurological problems can include intellectual disability, seizures, weak muscle tone (hypotonia), poor coordination, and difficulty walking. Some affected individuals have abnormal brain structures, such as underdevelopment of the tissue connecting the left and right halves of the brain (corpus callosum), wasting away (atrophy) of the exterior part of the brain known as the cerebral cortex, or patches of damaged tissue (lesions) on some parts of the brain. Because of the severe health effects, many people with pyruvate dehydrogenase deficiency do not survive past childhood, although some may live into adolescence or adulthood.
[from GHR]

Clinical features

Lactic acidosis
MedGen UID:
344523
Concept ID:
C1855560
Finding
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding

Recent clinical studies

Diagnosis

Prasad C, Rupar T, Prasad AN
Brain Dev 2011 Nov;33(10):856-65. Epub 2011 Sep 9 doi: 10.1016/j.braindev.2011.08.003. [Epub ahead of print] PMID: 21908116
Quintana E, Mayr JA, García Silva MT, Font A, Tortoledo MA, Moliner S, Ozaez L, Lluch M, Cabello A, Ricoy JR, Koch J, Ribes A, Sperl W, Briones P
J Inherit Metab Dis 2009 Dec;32 Suppl 1:S339-43. Epub 2009 Nov 9 doi: 10.1007/s10545-009-1343-1. [Epub ahead of print] PMID: 19924563
Okajima K, Korotchkina LG, Prasad C, Rupar T, Phillips JA 3rd, Ficicioglu C, Hertecant J, Patel MS, Kerr DS
Mol Genet Metab 2008 Apr;93(4):371-80. Epub 2008 Mar 4 doi: 10.1016/j.ymgme.2007.10.135. [Epub ahead of print] PMID: 18164639
Chun K, MacKay N, Petrova-Benedict R, Robinson BH
Am J Hum Genet 1991 Aug;49(2):414-20. PMID: 1907799Free PMC Article
Old SE, De Vivo DC
Ann Neurol 1989 Dec;26(6):746-51. doi: 10.1002/ana.410260610. PMID: 2513771

Prognosis

Quintana E, Mayr JA, García Silva MT, Font A, Tortoledo MA, Moliner S, Ozaez L, Lluch M, Cabello A, Ricoy JR, Koch J, Ribes A, Sperl W, Briones P
J Inherit Metab Dis 2009 Dec;32 Suppl 1:S339-43. Epub 2009 Nov 9 doi: 10.1007/s10545-009-1343-1. [Epub ahead of print] PMID: 19924563
Okajima K, Korotchkina LG, Prasad C, Rupar T, Phillips JA 3rd, Ficicioglu C, Hertecant J, Patel MS, Kerr DS
Mol Genet Metab 2008 Apr;93(4):371-80. Epub 2008 Mar 4 doi: 10.1016/j.ymgme.2007.10.135. [Epub ahead of print] PMID: 18164639
Seyda A, McEachern G, Haas R, Robinson BH
Hum Mol Genet 2000 Apr 12;9(7):1041-8. PMID: 10767328
Chun K, MacKay N, Petrova-Benedict R, Robinson BH
Hum Mol Genet 1993 Apr;2(4):449-54. PMID: 8504306

Clinical prediction guides

Quintana E, Mayr JA, García Silva MT, Font A, Tortoledo MA, Moliner S, Ozaez L, Lluch M, Cabello A, Ricoy JR, Koch J, Ribes A, Sperl W, Briones P
J Inherit Metab Dis 2009 Dec;32 Suppl 1:S339-43. Epub 2009 Nov 9 doi: 10.1007/s10545-009-1343-1. [Epub ahead of print] PMID: 19924563
Okajima K, Korotchkina LG, Prasad C, Rupar T, Phillips JA 3rd, Ficicioglu C, Hertecant J, Patel MS, Kerr DS
Mol Genet Metab 2008 Apr;93(4):371-80. Epub 2008 Mar 4 doi: 10.1016/j.ymgme.2007.10.135. [Epub ahead of print] PMID: 18164639
Chun K, MacKay N, Petrova-Benedict R, Robinson BH
Am J Hum Genet 1991 Aug;49(2):414-20. PMID: 1907799Free PMC Article

Recent systematic reviews

Prasad C, Rupar T, Prasad AN
Brain Dev 2011 Nov;33(10):856-65. Epub 2011 Sep 9 doi: 10.1016/j.braindev.2011.08.003. [Epub ahead of print] PMID: 21908116

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