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Results: 1 to 20 of 49

1.

Acidemia

MedGen UID:
541142
Concept ID:
C0268030
Pathologic Function
2.

Acidosis

Abnormal acid accumulation or depletion of base. [from HPO]

MedGen UID:
505014
Concept ID:
CN001755
Finding
3.

Glutaric acidemia

An increased concentration of glutaric acid in the blood. [from HPO]

MedGen UID:
446493
Concept ID:
CN003186
Finding
4.

Life Threatening

A situation that imperils the existence of an entity. [from NCI]

MedGen UID:
415288
Concept ID:
C2826244
Finding
5.

Spondylometaepiphyseal dysplasia short limb-hand type

MedGen UID:
338595
Concept ID:
C1849011
Disease or Syndrome
6.

Glutaric aciduria, type 2

Glutaric aciduria II (GA II) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I (231670) in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. GA II results from deficiency of any 1 of 3 molecules: the alpha (ETFA) and beta (ETFB) subunits of electron transfer flavoprotein, and electron transfer flavoprotein dehydrogenase (ETFDH). The clinical picture of GA II due to the different defects appears to be indistinguishable; each defect can lead to a range of mild or severe cases, depending presumably on the location and nature of the intragenic lesion, i.e., mutation, in each case (Goodman, 1993; Olsen et al., 2003). The heterogeneous clinical features of patients with MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in patients with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress (summary by Frerman and Goodman, 2001). Importantly, riboflavin treatment has been shown to ameliorate the symptoms and metabolic profiles in many MADD patients, particularly those with type III, the late-onset and mildest form (Liang et al., 2009). [from OMIM]

MedGen UID:
75696
Concept ID:
C0268596
Disease or Syndrome
7.

Acute

Symptoms or signs that begin and worsen quickly; not chronic. [from NCI]

MedGen UID:
61381
Concept ID:
C0205178
8.

Sudden death

An unexpected cessation of life that cannot be attributed to a CTCAE term associated with Grade 5. [from NCI_CTCAE]

MedGen UID:
8257
Concept ID:
C0011071
Pathologic Function
9.

Metabolic acidosis

A condition in which the blood is too acidic. It may be caused by severe illness or sepsis (bacteria in the bloodstream). [from NCI]

MedGen UID:
65117
Concept ID:
C0220981
Pathologic Function
10.

TANDEM

MedGen UID:
36523
Concept ID:
C0075804
Pharmacologic Substance
11.

Ubiquinone

A lipid-soluble benzoquinone which is involved in ELECTRON TRANSPORT in mitochondrial preparations. The compound occurs in the majority of aerobic organisms, from bacteria to higher plants and animals. [from MeSH]

MedGen UID:
22536
Concept ID:
C0041536
Pharmacologic Substance
12.

Diagnosis

The process of identifying a disease, such as cancer, from its signs and symptoms. [from NCI]

MedGen UID:
8354
Concept ID:
C0011900
Finding
13.

Hypoglycemia

Hypoglycemia means low blood glucose, or blood sugar. Your body needs glucose to have enough energy. After you eat, your blood absorbs glucose. If you eat more sugar than your body needs, your muscles, and liver store the extra. When your blood sugar begins to fall, a hormone tells your liver to release glucose. In most people, this raises blood sugar. If it doesn't, you have hypoglycemia, and your blood sugar can be dangerously low. Signs include : -Hunger. -Shakiness. -Dizziness. -Confusion. -Difficulty speaking. -Feeling anxious or weak. In people with diabetes, hypoglycemia is often a side effect of diabetes medicines. Eating or drinking something with carbohydrates can help. If it happens often, your health care provider may need to change your treatment plan. You can also have low blood sugar without having diabetes. Causes include certain medicines or diseases, hormone or enzyme deficiencies, and tumors. Laboratory tests can help find the cause. The kind of treatment depends on why you have low blood sugar. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.  [from MedlinePlus]

MedGen UID:
6979
Concept ID:
C0020615
Disease or Syndrome
14.

Electron transfer

The process by which ELECTRONS are transported from a reduced substrate to molecular OXYGEN. (From Bennington, Saunders Dictionary and Encyclopedia of Laboratory Medicine and Technology, 1984, p270) [from MeSH]

MedGen UID:
4000
Concept ID:
C0013846
Molecular Function
15.

Acidosis

An abnormal increase in the acidity of the body's fluids [from CHV]

MedGen UID:
1296
Concept ID:
C0001122
Pathologic Function
16.

Neonatal

From delivery to 4 weeks of life. [from ORDO]

MedGen UID:
832381
Concept ID:
CN227392
Disease or Syndrome
17.

Infancy

From 4 weeks to 23 months of life. [from ORDO]

MedGen UID:
832100
Concept ID:
CN227393
Disease or Syndrome
18.

Blood glucose decreased

Abnormally low blood sugar. [from NCI]

MedGen UID:
777034
Concept ID:
C0595883
Finding
19.

Newborn

MedGen UID:
745693
Concept ID:
C2239178
Finding
20.

Detected

MedGen UID:
617726
Concept ID:
C0442726
Finding

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