pyruvate carboxylase deficiency disease

ピルビン酸カルボキシラーゼ欠損症

WordNet

1. an impairment of health or a condition of abnormal functioning
2. caused by or altered by or manifesting disease or pathology; "diseased tonsils"; "a morbid growth"; "pathologic tissue"; "pathological bodily processes" (同)morbid, pathologic, pathological

PrepTutorEJDIC

1. (体の)『病気』,疾患 / (精神・道徳などの)病気,病弊
2. 女性の話術芸人 =diseur
3. 〈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
4. 病気にかかった / 病的な,不健全な(morbid)

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2013/11/22 18:17:36」(JST)

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Pyruvate carboxylase deficiency
Classification and external resources
Oxaloacetate is the product of pyruvate carboxylase
ICD-10	E74.4
ICD-9	271.8
OMIM	266150
DiseasesDB	7378
eMedicine	med/1979 ped/1967
MeSH	D015324

Pyruvate carboxylase deficiency is an inherited disorder that causes lactic acid and other potentially toxic compounds to accumulate in the blood. High levels of these substances can damage the body's organs and tissues, particularly in the nervous system. Pyruvate carboxylase deficiency is a rare condition, with an estimated incidence of 1 in 250,000 births worldwide. This disorder appears to be much more common in some Algonkian Indian tribes in eastern Canada.^{[citation needed]}

Classification

Researchers have identified at least three types of pyruvate carboxylase deficiency, which are distinguished by the severity of their signs and symptoms.

Type A

Type A, which has been identified mostly in people from North America, has moderately severe symptoms that begin in infancy. Characteristic features include developmental delay and a buildup of lactic acid in the blood (lactic acidosis). Increased acidity in the blood can lead to vomiting, abdominal pain, extreme tiredness (fatigue), muscle weakness, and difficulty breathing. In some cases, episodes of lactic acidosis are triggered by an illness or periods without food. Children with pyruvate carboxylase deficiency type A typically survive only into early childhood.

Type B

Pyruvate carboxylase deficiency type B has life-threatening signs and symptoms that become apparent shortly after birth. This form of the condition has been reported mostly in Europe, particularly France. Affected infants have severe lactic acidosis, a buildup of ammonia in the blood (hyperammonemia), and liver failure. They experience neurological problems including weak muscle tone (hypotonia), abnormal movements, seizures, and coma. Infants with this form of the condition usually survive for less than 3 months after birth.

Genetics

Pyruvate carboxylase deficiency has an autosomal recessive pattern of inheritance.

Mutations in the PC gene cause pyruvate carboxylase deficiency. The PC gene provides instructions for making an enzyme called pyruvate carboxylase. This enzyme is active in mitochondria, which are the energy-producing centers within cells. It is involved in several important cellular functions including the generation of glucose, a simple sugar that is the body's main energy source. Pyruvate carboxylase also plays a role in the formation of the protective sheath that surrounds certain nerve cells (myelin) and the production of brain chemicals called neurotransmitters.

Mutations in the PC gene reduce the amount of pyruvate carboxylase in cells or disrupt the enzyme's activity. The missing or altered enzyme cannot carry out its essential role in generating glucose, which impairs the body's ability to make energy in mitochondria. Additionally, a loss of pyruvate carboxylase allows potentially toxic compounds such as lactic acid and ammonia to build up and damage organs and tissues. Researchers suggest that the loss of pyruvate carboxylase function in the nervous system, particularly the role of the enzyme in myelin formation and neurotransmitter production, also contributes to the neurologic features of pyruvate carboxylase deficiency.

This condition is inherited in an autosomal recessive pattern, which means two copies of the gene must be inherited for the disorder to be present. The parents of an individual with an autosomal recessive disorder are carriers of one copy of the altered gene, but do not show signs and symptoms of the disorder.

External links

• GeneReview/NCBI/NIH/UW entry on Pyruvate Carboxylase Deficiency

See also

• Pyruvate carboxylase deficiency at NLM Genetics Home Reference

UpToDate Contents

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• 1. 幼児および小児における低血糖症の病因 etiology of hypoglycemia in infants and children
• 2. 消失性白質疾患（Vanishing white matter disease） vanishing white matter disease
• 3. 先天性代謝異常：疫学、病因、および臨床的特徴 inborn errors of metabolism epidemiology pathogenesis and clinical features
• 4. 新生児低血糖 neonatal hypoglycemia
• 5. 先天性代謝異常：個々の障害の発見 inborn errors of metabolism identifying the specific disorder

English Journal

• [Delayed onset holocarboxylase synthetase deficiency with normal pyruvate carboxylase activity].

• Vitoria I1, Rausell D2, González I3, Pérez-Cerdá C4, Dalmau J5.
• Anales de pediatría (Barcelona, Spain : 2003).An Pediatr (Barc).2014 Mar;80(3):184-6. doi: 10.1016/j.anpedi.2013.05.035. Epub 2013 Oct 5.
• We report a case of holocarboxylase synthetase deficiency with normal pyruvate carboxylase activity in the lymphocytes of an 8 year-old girl with clinical toxicity without the classic dermatological involvement. The identification of three nucleotide changes in the holocarboxylase synthetase (HLCS)
• PMID 24099927

• Infantile parkinsonism and GABAergic hypotransmission in a patient with pyruvate carboxylase deficiency.

• Ortez C1, Jou C, Cortès-Saladelafont E, Moreno J, Pérez A, Ormazábal A, Pérez-Cerdá C, Pérez B, Artuch R, Cusi V, García-Cazorla A.
• Gene.Gene.2013 Dec 15;532(2):302-6. doi: 10.1016/j.gene.2013.08.036. Epub 2013 Aug 23.
• Pyruvate carboxylase deficiency is a rare metabolic disorder, with three different phenotypes. We aim to report the case of a newborn presenting the severe neonatal form of this deficiency (the B or "French" phenotype, hypokinesia and rigidity being the main features) and the results of the study of
• PMID 23973720

• Methionine restriction prevents the progression of hepatic steatosis in leptin-deficient obese mice.

• Malloy VL1, Perrone CE, Mattocks DA, Ables GP, Caliendo NS, Orentreich DS, Orentreich N.
• Metabolism: clinical and experimental.Metabolism.2013 Nov;62(11):1651-61. doi: 10.1016/j.metabol.2013.06.012. Epub 2013 Aug 5.
• OBJECTIVE: This study investigated the effects of dietary methionine restriction (MR) on the progression of established hepatic steatosis in the leptin-deficient ob/ob mouse.MATERIAL/METHODS: Ten-week-old ob/ob mice were fed diets containing 0.86% (control-fed; CF) or 0.12% methionine (MR) for 14 we
• PMID 23928105

Japanese Journal

• NEUROCHEMICAL CHANGES IN LEIGH'S DISEASE

• Murphy Jerome V.
• Ｊｏｕｒｎａｌ　ｏｆ　Ｎｕｔｒｉｔｉｏｎａｌ　Ｓｃｉｅｎｃｅ　ａｎｄ　Ｖｉｔａｍｉｎｏｌｏｇｙ　 22(Supplement), 69-73, 1976
• … A series of children with Leigh's disease had normal hepatic pyruvate carboxylase activity, increased cerebral thiamine diphosphate, and decreased cerebral thiamine triphosphate. … The author suggests that the histologic changes of Leigh's disease, as well as the similar changes of Wernicke's disease, could be due to a deficiency of cerebral thiamine triphosphate. …
• NAID 130001372450

Related Links

• Pyruvate carboxylase deficiency - Genetics Home Reference

Pyruvate carboxylase deficiency is an inherited disorder that causes lactic acid and other potentially toxic compounds to accumulate in the blood. High levels of these substances can damage the body's organs and tissues, particularly in the ...

• Pyruvate Carboxylase Deficiency - Medscape Reference

13 Dec 2011 ... Pyruvate Carboxylase Deficiency. Pyruvate carboxylase (PC) deficiency is a rare disorder that can cause developmental delay and failure to thrive starting in the neonatal or early infantile period.

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関連記事	「disease」「deficiency」「pyruvate carboxylase」「pyruvate」

「disease」

　　[★]

• n.

疾患：illnessより厳密な概念。「ある臓器に明確な障害が確認され、それによって症状が出ているとはっきり説明できる場合」 (PSY.9)

特定の原因、病態生理、症状、経過、予後、病理組織所見が全てそろった場合 (PSY.9)

• something that is very wrong with people's attitudes, way of life or with society.

関

ail、ailment、disease entity、disorder、ill、illness、malady、sick、sickness

• 注意

disease ≠ illness ≠ disorder

　 　 　

「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

　

「pyruvate carboxylase」

　　[★] ピルビン酸カルボキシラーゼ

同

PC欠損症

「pyruvate」

　　[★] ピルビン酸 pyruvic acid