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Pyruvate dehydrogenase phosphatase deficiency(PDHPD)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: Lactic acidemia with pyruvate dehydrogenase phosphatase deficiency; PDHPD
SNOMED CT: Pyruvate dehydrogenase phosphatase deficiency (1003847003)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
Concept ID:
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Gene (location): PDP1 (8q22.1)
Monarch Initiative: MONDO:0012120
OMIM®: 608782
Orphanet: ORPHA79246


Pyruvate dehydrogenase phosphatase deficiency (PDHPD) is an autosomal recessive disorder of pyruvate metabolism characterized by neonatal/infantile and childhood lactic acidosis, normal lactate to pyruvate ratio, elevated plasma alanine, delayed psychomotor development, epileptic encephalopathy, and hypotonia (summary by Bedoyan et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of pyruvate dehydrogenase (PDH) deficiency, see 312170. [from OMIM]

Additional description

From MedlinePlus Genetics
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 individuals with pyruvate dehydrogenase deficiency do not survive past childhood, although some may live into adolescence or adulthood.  https://medlineplus.gov/genetics/condition/pyruvate-dehydrogenase-deficiency

Clinical features

From HPO
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Disease or Syndrome
Difficulty in swallowing.
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Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Global developmental delay
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A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Gait ataxia
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Sign or Symptom
A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.
Intellectual disability
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Mental or Behavioral Dysfunction
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
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Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Generalized hypotonia
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Generalized muscular hypotonia (abnormally low muscle tone).
Lactic acidosis
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Disease or Syndrome
An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids.
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Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Decreased activity of the pyruvate dehydrogenase complex
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPyruvate dehydrogenase phosphatase deficiency
Follow this link to review classifications for Pyruvate dehydrogenase phosphatase deficiency in Orphanet.

Recent clinical studies


Maj MC, Cameron JM, Robinson BH
Mol Cell Endocrinol 2006 Apr 25;249(1-2):1-9. Epub 2006 Mar 29 doi: 10.1016/j.mce.2006.02.003. PMID: 16574315


Maj MC, MacKay N, Levandovskiy V, Addis J, Baumgartner ER, Baumgartner MR, Robinson BH, Cameron JM
J Clin Endocrinol Metab 2005 Jul;90(7):4101-7. Epub 2005 Apr 26 doi: 10.1210/jc.2005-0123. PMID: 15855260
Robinson BH, Sherwood WG
Pediatr Res 1975 Dec;9(12):935-9. doi: 10.1203/00006450-197512000-00015. PMID: 172850


Cameron JM, Maj M, Levandovskiy V, Barnett CP, Blaser S, Mackay N, Raiman J, Feigenbaum A, Schulze A, Robinson BH
Hum Genet 2009 Apr;125(3):319-26. Epub 2009 Jan 30 doi: 10.1007/s00439-009-0629-6. PMID: 19184109

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