propionyl-CoA carboxylase deficiency

プロピオニルCoAカルボキシラーゼ欠損症

WordNet

1. the 3rd letter of the Roman alphabet (同)c
2. (music) the keynote of the scale of C major
3. a general-purpose programing language closely associated with the UNIX operating system

PrepTutorEJDIC

1. 〈U〉〈C〉(…の)(量・額などの)不足,欠乏《+『of』(『in』)+『名』》 / 〈C〉不足分,不足量,不足額 / 〈C〉(精神・肉体などの)欠陥
2. carbonの化学記号
3. cobaltの化学記号

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/08/28 12:13:32」(JST)

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Propionic acidemia
Propionic acid
Classification and external resources
Specialty	endocrinology
ICD-10	E71.1
ICD-9-CM	270.3
OMIM	606054
DiseasesDB	29673 29904
eMedicine	ped/1906

Propionic acidemia, also known as propionic aciduria, propionyl-CoA carboxylase deficiency and ketotic glycinemia, is an autosomal recessive metabolic disorder, classified as a branched-chain organic acidemia.

The disorder presents in the early neonatal period with progressive encephalopathy. Death can occur quickly, due to secondary hyperammonemia, infection, cardiomyopathy, or basal ganglial stroke.

Propionic acidemia is a rare disorder that is inherited from both parents. Being autosomal recessive, neither parent shows symptoms, but both carry a defective gene responsible for this disease. It takes two faulty genes to cause PA, so there is a 1 in 4 chance for these parents to have a child with PA.

Pathophysiology

Methylmalonic acidemia is caused by a defect in the vitamin B₁₂-dependent enzyme methylmalonyl CoA mutase.

In healthy individuals, the enzyme propionyl CoA carboxylase converts propionyl CoA to methylmalonyl CoA. This is one step in the process of converting certain amino acids and fats into sugar for energy. Individuals with PA cannot perform this conversion because the enzyme propionyl CoA carboxylase is nonfunctional. The essential amino acids isoleucine, valine, threonine, and methionine, as well as odd-chain fatty acids, are simply converted to propionyl CoA, before the process stops, leading to a buildup of propionyl CoA. Instead of being converted to methylmalonyl CoA, propionyl CoA is then converted into propionic acid, which builds up in the bloodstream. This in turn causes an accumulation of dangerous acids and toxins, which can cause damage to the organs.

In many cases, PA can damage the brain, heart, and liver, cause seizures, and delays to normal development like walking and talking. During times of illness the affected person may need to be hospitalized to prevent breakdown of proteins within the body. Each meal presents a challenge to those with PA. If not constantly monitored, the effects would be devastating. Dietary needs must be closely managed by a metabolic geneticist or metabolic dietician.

Mutations in both copies of the PCCA or PCCB genes cause propionic acidemia. These genes are responsible for the formation of the enzyme propionyl-CoA carboxylase (EC 6.4.1.3), referred to as PCC.

PCC is required for the normal breakdown of the essential amino acids valine, isoleucine, threonine, and methionine, as well as certain odd-chained fatty-acids. Mutations in the PCCA or PCCB genes disrupt the function of the enzyme, preventing these acids from being metabolized. As a result, propionyl-CoA, propionic acid, ketones, ammonia, and other toxic compounds accumulate in the blood, causing the signs and symptoms of propionic acidemia.

Symptoms

Propionic acidemia is characterized almost immediately in newborns. Symptoms include poor feeding, vomiting, dehydration, acidosis, low muscle tone (hypotonia), seizures, and lethargy. The effects of propionic acidemia quickly become life-threatening.

Genetic prevalence

Propionic acidemia has an autosomal recessive pattern of inheritance.

Propionic acidemia is inherited in an autosomal recessive pattern and is found in about 1 in 35,000 live births in the United States. The condition appears to be more common in Saudi Arabia, with a frequency of about 1 in 3,000. The condition also appears to be common in Amish, Mennonite and other populations where inbreeding is common.

Management

Patients with propionic acidemia should be started as early as possible on a low protein diet. In addition to a protein mixture that is devoid of methionine, threonine, valine, and isoleucine, the patient should also receive L-carnitine treatment and should be given antibiotics 10 days per month in order to remove the intestinal propiogenic flora. The patient should have diet protocols prepared for him with a “well day diet” with low protein content, a “half emergency diet” containing half of the protein requirements, and an “emergency diet” with no protein content. These patients are under the risk of severe hyperammonemia during infections that can lead to comatose states.

Liver transplant is gaining a role in the management of these patients, with small series showing improved quality of life.

See also

• Methylmalonic acidemia
• Isovaleric acidemia
• Maple syrup urine disease

References

External links

• Propionic Acidemia Foundation
• Organic Acidemia Association
• Propionic Acidemia Research Network (PARnet)
• Gwen for a Cure
• Propionic acidemia at NLM Genetics Home Reference
• Propionic acidemia at NIH's Office of Rare Diseases
• "Propionic acidemia". Orphanet. 

UpToDate Contents

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• 5. アデノシンデアミナーゼ欠損症：治療 adenosine deaminase deficiency treatment

English Journal

• Death of a Neonate With a Negative Autopsy and Ketoacidosis: A Case Report of Propionic Acidemia.

• Krizova A1, Herath JC.
• The American journal of forensic medicine and pathology.Am J Forensic Med Pathol.2015 Sep;36(3):193-5. doi: 10.1097/PAF.0000000000000156.
• Facing a sudden neonatal death in the forensic setting brings to mind enormous differential diagnostic possibilities. This case report demonstrates that at times, when no anatomical cause of death is apparent after a postmortem examination, ancillary testing can lead to diagnosis. In this case, anci
• PMID 26017692

• Cost-effectiveness of liver transplantation in methylmalonic and propionic acidemias.

• Li M1, Dick A2,3, Montenovo M2, Horslen S4,5,6, Hansen R1.
• Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society.Liver Transpl.2015 Sep;21(9):1208-18. doi: 10.1002/lt.24173.
• Propionic acidemia (PA) and classical methylmalonic acidemia (MMA) are rare inborn errors of metabolism that can cause early mortality and significant morbidity. The mainstay of disease management is lifelong protein restriction. As an alternative, liver transplantation (LT) may improve survival, qu
• PMID 25990417

• A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemias.

• Manoli I1, Myles JG2, Sloan JL1, Shchelochkov OA3, Venditti CP1.
• Genetics in medicine : official journal of the American College of Medical Genetics.Genet Med.2015 Aug 13. doi: 10.1038/gim.2015.102. [Epub ahead of print]
• PURPOSE: Medical foods for methylmalonic acidemias (MMAs) and propionic acidemias contain minimal valine, isoleucine, methionine, and threonine but have been formulated with increased leucine. We aimed to assess the effects of imbalanced branched-chain amino acid intake on metabolic and growth param
• PMID 26270765

Japanese Journal

• ビオチンと胎児発育(<特集>ビタミン・ミネラルと生殖【II】)

• 谷口 歩美,渡邊 敏明
• ビタミン 82(10), 543-551, 2008-10-25
• … As for the expression of carboxylases, ACC (acetyl CoA carboxylase) was detected in both the yolks of domestic fowl and the livers of mouse dams. … PC (pyruvate carboxylase), MCC (methylcrotonyl CoA carboxylase) and PCC (propionyl CoA carboxylase) were observed in their embryos, but ACC levels were low, so it was not detected using the Western blotting technique. …
• NAID 110006976921

• Urinary acid profiles in asymptomatic and symptomatic siblings with propionyl CoA carboxylase deficiency.

• KUHARA Tomiko,MATSUMOTO Masahiro,INOUE Yoshito,OHKURA Takashi,AOYAMA Tsuneo,MATSUO Masafumi,MATSUMOTO Isamu
• Journal of Clinical Biochemistry and Nutrition 7(1), 1-7, 1989
• … Our observations indicate that propionyl CoA carboxylase deficiency is reflected in urinary organic acid profiles even in an asymptomatic case, and emphasize the importance of investigating the urinary organic acids of asymptomatic siblings of a propionic acidemia patient, especially when their urinary glycine levels are significantly elevated. …
• NAID 130003670659

• ビオプテリン代謝異常症並びにビオチン代謝異常症に関する研究

• 成沢 邦明
• ビタミン 59(12), 605-613, 1985-12-25
• … Two siblings with dihydropteridine reductase (DHPR) deficiency were examined, who showed convulsions and severe mental retardation despite dietary control of blood phenylalaninemia. … We developed two diagnostic methods for BH_4 deficiency. … A newborn infant with multiple carboxylase deficinecy was observed with tachypnea, seizures and metabolic ketoacidosis. …
• NAID 110002846897

Related Links

• Propionyl coA carboxylase deficiency - RightDiagnosis.com

Propionyl coA carboxylase deficiency symptoms, causes, diagnosis, and treatment information for Propionyl coA carboxylase deficiency (Acidemia, propionic) with alternative diagnoses, full-text book chapters, misdiagnosis, research ...

• Propionyl CoA Carboxylase Deficiency - Organic Acidemia ...

Organic Acidemia Metabolic Disorders (MHBD) 2-Methyl-3-Hydroxybutyrl CoA Dehydrogenase deficiency (2MBCD) 2-Methylbutyryl-CoA Dehydrogenase Deficiency (HMG) 3-hydroxy-3 -methylglutaryl-CoA lyase deficiency (3 ...

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★リンクテーブル★

リンク元	「プロピオン酸血症」
関連記事	「deficiency」「C」「CoA」「COA」「Co」

「プロピオン酸血症」

　　[★]

英

propionic acidemia

同

プロピオニルCoAカルボキシラーゼ欠損症 propionyl-CoA carboxylase deficiency

関

プロピオニルCoAカルボキシラーゼ、プロピオン酸、プロピオン酸尿症

「deficiency」

　　[★]

• n.

• 不足、欠乏、欠失、欠如、欠損、不十分。栄養不足、栄養素欠乏、欠乏症。(遺伝子)(染色体内の)遺伝子欠失
• 欠けているもの、不足している物。不足分。不完全なもの、欠点のあるもの

関

absence, agenesis, dearth, defect, defective, deficient, deficit, delete, deletion, deletional, depletion, deprivation, deprive, lack, miss, missing, morphological defect, paucity, scarce, scarcity, starve

　

「C」

　　[★]

• 炭素 carbon
• シトシン cytosine
• システイン cysteine
• シチジン
• セルシウス度 摂氏 degrees Celsius degree C
• 産婦人科領域で「子宮外頚 子宮外頚部 exocervix」を表現するための略語

　 　 　 　

「CoA」

　　[★]

• 大動脈縮窄症 coactation of the aorta
• 補酵素A coenzyme A

「COA」

　　[★] 補酵素A coenzyme A CoA

「Co」

　　[★] コバルト cobalt