| Descriptor English: | Pyruvate Dehydrogenase Complex Deficiency Disease | ||||||
| Descriptor Spanish: |
Enfermedad por Deficiencia del Complejo Piruvato Deshidrogenasa
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| Descriptor Portuguese: | Doença da Deficiência do Complexo de Piruvato Desidrogenase | ||||||
| Descriptor French: | Déficit en complexe pyruvate-déshydrogénase | ||||||
| Entry term(s): |
Ataxia with Lactic Acidosis Ataxia with Lactic Acidosis I Ataxia with Lactic Acidosis, Type I Ataxia, Intermittent, with Abnormal Pyruvate Metabolism Ataxia, Intermittent, with Pyruvate Dehydrogenase, or Decarboxylase, Deficiency Deficiency, PDH Deficiency, PDHC Deficiency, Pyruvate Decarboxylase Deficiency, Pyruvate Dehydrogenase Intermittent Ataxia with Pyruvate Dehydrogenase Deficiency Juvenile Pyruvate Dehydrogenase Complex Deficiency Disease Lactic Acidosis with Ataxia, Type I Neonatal Pyruvate Dehydrogenase Complex Deficiency Disease PDH Deficiency PDHC Deficiency PDHC Deficiency Disease Pyruvate Decarboxylase Deficiency Pyruvate Dehydrogenase Complex Deficiency Pyruvate Dehydrogenase Complex Deficiency Disease, Juvenile Pyruvate Dehydrogenase Complex Deficiency Disease, Neonatal Pyruvate Dehydrogenase Deficiency Type I Ataxia with Lactic Acidosis |
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| Tree number(s): |
C10.228.140.163.100.750 C10.597.606.360.455.875 C16.320.322.500.875 C16.320.400.525.875 C16.320.565.189.750 C16.320.565.202.810.766 C18.452.132.100.750 C18.452.648.189.750 C18.452.648.202.810.766 C18.452.660.710 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D015325 | ||||||
| Scope note: | An inherited metabolic disorder caused by deficient enzyme activity in the PYRUVATE DEHYDROGENASE COMPLEX, resulting in deficiency of acetyl CoA and reduced synthesis of acetylcholine. Two clinical forms are recognized: neonatal and juvenile. The neonatal form is a relatively common cause of lactic acidosis in the first weeks of life and may also feature an erythematous rash. The juvenile form presents with lactic acidosis, alopecia, intermittent ATAXIA; SEIZURES; and an erythematous rash. (From J Inherit Metab Dis 1996;19(4):452-62) Autosomal recessive and X-linked forms are caused by mutations in the genes for the three different enzyme components of this multisubunit pyruvate dehydrogenase complex. One of the mutations at Xp22.2-p22.1 in the gene for the E1 alpha component of the complex leads to LEIGH DISEASE. |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Previous Indexing: |
Pyruvate Dehydrogenase Complex/deficiency (1974-1988) |
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| Public MeSH Note: | 2000; see PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY 1991-1999; see PYRUVATE METABOLISM, INBORN ERRORS 1989-1990 |
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| History Note: | 2000(1989); use PYRUVATE METABOLISM, INBORN ERRORS 1989-1990 |
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| Entry Version: | PYRUVATE DEHYDROGENASE COMPLEX DEFIC DIS |
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| Related: |
Leigh Disease
MeSH Pyruvate Dehydrogenase Complex MeSH | ||||||
| DeCS ID: | 23808 | ||||||
| Unique ID: | D015325 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 1991/01/01 | ||||||
| Date of Entry: | 1988/06/01 | ||||||
| Revision Date: | 2018/07/01 |
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Pyruvate Dehydrogenase Complex Deficiency Disease
- Preferred
Pyruvate Dehydrogenase Complex Deficiency Disease, Neonatal
- Narrower
Ataxia with Lactic Acidosis, Type I
- Narrower
Juvenile Pyruvate Dehydrogenase Complex Deficiency Disease
- Narrower
| Concept UI |
M0023594 |
| Scope note | An inherited metabolic disorder caused by deficient enzyme activity in the PYRUVATE DEHYDROGENASE COMPLEX, resulting in deficiency of acetyl CoA and reduced synthesis of acetylcholine. Two clinical forms are recognized: neonatal and juvenile. The neonatal form is a relatively common cause of lactic acidosis in the first weeks of life and may also feature an erythematous rash. The juvenile form presents with lactic acidosis, alopecia, intermittent ATAXIA; SEIZURES; and an erythematous rash. (From J Inherit Metab Dis 1996;19(4):452-62) Autosomal recessive and X-linked forms are caused by mutations in the genes for the three different enzyme components of this multisubunit pyruvate dehydrogenase complex. One of the mutations at Xp22.2-p22.1 in the gene for the E1 alpha component of the complex leads to LEIGH DISEASE. |
| Preferred term | Pyruvate Dehydrogenase Complex Deficiency Disease |
| Entry term(s) |
Ataxia, Intermittent, with Abnormal Pyruvate Metabolism Ataxia, Intermittent, with Pyruvate Dehydrogenase, or Decarboxylase, Deficiency Deficiency, PDH Deficiency, PDHC Deficiency, Pyruvate Decarboxylase Deficiency, Pyruvate Dehydrogenase Intermittent Ataxia with Pyruvate Dehydrogenase Deficiency PDH Deficiency PDHC Deficiency PDHC Deficiency Disease Pyruvate Decarboxylase Deficiency Pyruvate Dehydrogenase Complex Deficiency Pyruvate Dehydrogenase Deficiency |
| Concept UI |
M0335907 |
| Preferred term | Pyruvate Dehydrogenase Complex Deficiency Disease, Neonatal |
| Entry term(s) |
Neonatal Pyruvate Dehydrogenase Complex Deficiency Disease |
| Concept UI |
M0335905 |
| Preferred term | Ataxia with Lactic Acidosis, Type I |
| Entry term(s) |
Ataxia with Lactic Acidosis Ataxia with Lactic Acidosis I Lactic Acidosis with Ataxia, Type I Type I Ataxia with Lactic Acidosis |
| Concept UI |
M0335906 |
| Preferred term | Juvenile Pyruvate Dehydrogenase Complex Deficiency Disease |
| Entry term(s) |
Pyruvate Dehydrogenase Complex Deficiency Disease, Juvenile |
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