| D007223 |
Infant |
A child between 1 and 23 months of age. |
Infants |
|
| D007231 |
Infant, Newborn |
An infant during the first 28 days after birth. |
Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants |
|
| D008297 |
Male |
|
Males |
|
| D008931 |
Mitochondria, Muscle |
Mitochondria of skeletal and smooth muscle. It does not include myocardial mitochondria for which MITOCHONDRIA, HEART is available. |
Sarcosomes,Mitochondrion, Muscle,Muscle Mitochondria,Muscle Mitochondrion,Sarcosome |
|
| D009132 |
Muscles |
Contractile tissue that produces movement in animals. |
Muscle Tissue,Muscle,Muscle Tissues,Tissue, Muscle,Tissues, Muscle |
|
| D009135 |
Muscular Diseases |
Acquired, familial, and congenital disorders of SKELETAL MUSCLE and SMOOTH MUSCLE. |
Muscle Disorders,Myopathies,Myopathic Conditions,Muscle Disorder,Muscular Disease,Myopathic Condition,Myopathy |
|
| D005260 |
Female |
|
Females |
|
| D006801 |
Humans |
Members of the species Homo sapiens. |
Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man |
|
| D015325 |
Pyruvate Dehydrogenase Complex Deficiency Disease |
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. |
Ataxia with Lactic Acidosis, Type I,Lactic Acidosis with Ataxia, Type I,Ataxia with Lactic Acidosis,Ataxia with Lactic Acidosis I,Ataxia, Intermittent, with Abnormal Pyruvate Metabolism,Ataxia, Intermittent, with Pyruvate Dehydrogenase, or Decarboxylase, Deficiency,Intermittent Ataxia with Pyruvate Dehydrogenase Deficiency,Juvenile Pyruvate Dehydrogenase Complex Deficiency Disease,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,Deficiency, PDH,Deficiency, PDHC,Deficiency, Pyruvate Decarboxylase,Deficiency, Pyruvate Dehydrogenase |
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