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Items: 10

1.

Deficiency of 2-methylbutyryl-CoA dehydrogenase

2-Methylbutyryl-CoA dehydrogenase (MBD) deficiency is an autosomal recessive metabolic disorder of impaired isoleucine degradation. It is most often ascertained via newborn screening and is usually clinically asymptomatic, although some patients have been reported to have delayed development and neurologic signs. Therefore, the clinical relevance of the deficiency is unclear (Sass et al.., 2008). [from OMIM]

MedGen UID:
355324
Concept ID:
C1864912
Disease or Syndrome
2.

Primary cortisol resistance

MedGen UID:
443921
Concept ID:
C2930863
Disease or Syndrome
3.

Cranioosteoarthropathy

MedGen UID:
394824
Concept ID:
C2678439
Disease or Syndrome
4.

Asymptomatic

The finding of no indications of a particular disease or injury. [from NCI]

MedGen UID:
65413
Concept ID:
C0231221
Finding
5.

Inborn genetic diseases

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
6.

Metabolic disease

Metabolism is the process your body uses to get or make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive system break the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body tissues, such as your liver, muscles, and body fat. A metabolic disorder occurs when abnormal chemical reactions in your body disrupt this process. When this happens, you might have too much of some substances or too little of other ones that you need to stay healthy. . You can develop a metabolic disorder when some organs, such as your liver or pancreas, become diseased or do not function normally. Diabetes is an example. .  [from MedlinePlus]

MedGen UID:
44376
Concept ID:
C0025517
Disease or Syndrome
7.

Disorder of amino acid metabolism

Disorders affecting amino acid metabolism. The majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (e.g., ACIDOSIS) and neurologic manifestations. They are present at birth, although they may not become symptomatic until later in life. [from MeSH]

MedGen UID:
1867
Concept ID:
C0002514
Disease or Syndrome
8.

Disorder of isoleucine metabolism

MedGen UID:
376443
Concept ID:
C1848793
Disease or Syndrome
9.

Deficiency of isobutyryl-CoA dehydrogenase

Isobutyryl-CoA dehydrogenase (IBD) deficiency is a condition that disrupts the breakdown of certain proteins. Normally, proteins from food are broken down into parts called amino acids. Amino acids can be further processed to provide energy for growth and development. People with IBD deficiency have inadequate levels of an enzyme that helps break down a particular amino acid called valine.Most people with IBD deficiency are asymptomatic, which means they do not have any signs or symptoms of the condition. A few children with IBD deficiency have developed features such as a weakened and enlarged heart (dilated cardiomyopathy), weak muscle tone (hypotonia), and developmental delay. This condition may also cause low numbers of red blood cells (anemia) and very low blood levels of carnitine, which is a natural substance that helps convert certain foods into energy. The range of signs and symptoms associated with IBD deficiency remains unclear because very few affected individuals have been reported.
[from GHR]

MedGen UID:
370754
Concept ID:
C1969809
Disease or Syndrome
10.

Deficiency of butyryl-CoA dehydrogenase

The clinical findings in those with confirmed short-chain acyl-coA dehydrogenase (SCAD) deficiency range from severe (dysmorphic facial features, feeding difficulties/failure to thrive, metabolic acidosis, ketotic hypoglycemia, lethargy, developmental delay, seizures, hypotonia, dystonia, and myopathy) to normal. As in other fatty acid oxidation disorders, characteristic biochemical findings of SCAD deficiency may be absent except during times of physiologic stress such as fasting and illness. In the largest series of affected individuals published to date, 20% had failure to thrive, feeding difficulties, and hypotonia; 22% had seizures, and 30% had hypotonia without seizures. In contrast, the majority of infants with SCAD deficiency have been detected by expanded newborn screening, and the great majority of these infants remain asymptomatic. Because most infants with SCAD deficiency identified through newborn screening programs have been well at the time of diagnosis and asymptomatic relatives who meet diagnostic criteria are reported, the relationship of clinical manifestations to SCAD deficiency has come into question. [from GeneReviews]

MedGen UID:
90998
Concept ID:
C0342783
Disease or Syndrome
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