Disease (ORPHA:3008):
Pyruvate carboxylase deficiency
Leigh syndrome due to pyruvate carboxylase deficiency
Ataxia with lactic acidosis type II
Ataxia with lactic acidosis type 2
Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency
Leigh syndrome due to PC deficiency

Associated phenotypes (HPO):
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0011169
hpo_term: Generalized clonic seizure
chpo_term: 全面性阵挛性发作
id: HP:0012448
hpo_term: Delayed myelination
chpo_term: 髓鞘化延迟
id: HP:0012469
hpo_term: Infantile spasms
chpo_term: 婴儿痉挛
id: HP:0012698
hpo_term: Cerebellar gliosis
chpo_term: 小脑胶质细胞增生
id: HP:0012762
hpo_term: Cerebral white matter atrophy
chpo_term: 脑白质萎缩
id: HP:0025160
hpo_term: Abnormal temper tantrums
chpo_term: 异常发脾气
id: HP:0025336
hpo_term: Delayed ability to sit
chpo_term: 独坐能力延迟
id: HP:0030051
hpo_term: Tip-toe gait
chpo_term: 脚尖步
id: HP:0030890
hpo_term: Hyperintensity of cerebral white matter on MRI
chpo_term: MRI脑白质高信号
id: HP:0100660
hpo_term: Dyskinesia
chpo_term: 运动障碍
id: HP:0001259
hpo_term: Coma
chpo_term: 昏迷
id: HP:0100023
hpo_term: Recurrent hand flapping
chpo_term: 反复用手拍打
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
id: HP:0032653
hpo_term: Elevated lactate:pyruvate ratio
chpo_term: 乳酸/丙酮酸比例升高
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
id: HP:0001987
hpo_term: Hyperammonemia
chpo_term: 高氨血症
id: HP:0002161
hpo_term: Hyperlysinemia
chpo_term: 高赖氨酸血症
id: HP:0002490
hpo_term: Increased CSF lactate
chpo_term: 脑脊液乳酸升高
id: HP:0003348
hpo_term: Hyperalaninemia
chpo_term: 高丙氨酸血症
id: HP:0003542
hpo_term: Increased serum pyruvate
chpo_term: 血清丙酮酸增高
id: HP:0003648
hpo_term: Lacticaciduria
chpo_term: 乳酸血症
id: HP:0008358
hpo_term: Hyperprolinemia
chpo_term: 高脯氨酸血症
id: HP:0011966
hpo_term: Elevated plasma citrulline
chpo_term: 血浆瓜氨酸升高
id: HP:0012644
hpo_term: Increased caudate lactate level
chpo_term: 尾状核乳酸水平升高
id: HP:0012706
hpo_term: Elevated brain choline level by MRS
chpo_term: MRS发现脑胆碱水平升高
id: HP:0012707
hpo_term: Elevated brain lactate level by MRS
chpo_term: MRS发现乳酸水平升高
id: HP:0012708
hpo_term: Reduced brain N-acetyl aspartate level by MRS
chpo_term: 通过MRS发现N-乙酰天门冬氨酸水平降低
id: HP:0012758
hpo_term: Neurodevelopmental delay
chpo_term: 神经发育延迟
id: HP:0410175
hpo_term: Hyperketonemia
chpo_term: 高酮血症
id: HP:0500147
hpo_term: Hypoglutaminemia
chpo_term: 低谷氨酰胺血症
id: HP:0500149
hpo_term: Hyperglutamatemia
chpo_term: 高谷氨酸血症
id: HP:0500181
hpo_term: Hypertaurinemia
chpo_term: 高牛磺酸血症
id: HP:0500198
hpo_term: Decreased CSF glutamine concentration
chpo_term: 脑脊液谷氨酰胺浓度降低
id: HP:0500200
hpo_term: Increased CSF glutamate concentration
chpo_term: 脑脊液谷氨酸浓度升高
id: HP:0500231
hpo_term: Abnormal CSF pyruvate family amino acid concentration
chpo_term: 脑脊液丙酮酸家族氨基酸浓度异常
id: HP:0500233
hpo_term: Increased CSF alanine concentration
chpo_term: 脑脊液丙氨酸浓度升高
id: HP:0500246
hpo_term: Increased CSF citrulline concentration
chpo_term: 脑脊液瓜氨酸浓度升高
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000722
hpo_term: Obsessive-compulsive behavior
chpo_term: 强迫行为
id: HP:0000741
hpo_term: Apathy
chpo_term: 情感淡漠
id: HP:0000817
hpo_term: Poor eye contact
chpo_term: 眼神躲避
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001262
hpo_term: Excessive daytime somnolence
chpo_term: 日间睡眠增多
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0001944
hpo_term: Dehydration
chpo_term: 脱水
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002039
hpo_term: Anorexia
chpo_term: 厌食症
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002416
hpo_term: Subependymal cysts
chpo_term: 室管膜下囊肿
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0002789
hpo_term: Tachypnea
chpo_term: 呼吸过速
id: HP:0002793
hpo_term: Abnormal pattern of respiration
chpo_term: 呼吸模式异常
id: HP:0003074
hpo_term: Hyperglycemia
chpo_term: 高血糖
id: HP:0003228
hpo_term: Hypernatremia
chpo_term: 高钠血症
id: HP:0003265
hpo_term: Neonatal hyperbilirubinemia
chpo_term: 新生儿高胆红素血症
id: HP:0003429
hpo_term: CNS hypomyelination
chpo_term: 中枢神经系统髓鞘形成减少
id: HP:0006999
hpo_term: Basal ganglia gliosis
chpo_term: 基底节胶质细胞增生
id: HP:0007109
hpo_term: Periventricular cysts
chpo_term: 脑室周围囊肿