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Items: 1 to 20 of 67

1.

Medium-chain acyl-coenzyme A dehydrogenase deficiency

Medium-chain acyl-coenzyme A dehydrogenase (MCAD) is one of the enzymes involved in mitochondrial fatty acid ß-oxidation, which fuels hepatic ketogenesis, a major source of energy once hepatic glycogen stores become depleted during prolonged fasting and periods of higher energy demands. In a typical clinical scenario, a previously healthy child with MCAD deficiency presents with hypoketotic hypoglycemia, vomiting, and lethargy triggered by a common illness. Seizures may occur. Hepatomegaly and liver disease are often present during an acute episode, which can quickly progress to coma and death. Children are normal at birth and – if not identified through newborn screening – typically present between ages three and 24 months; later presentation, even into adulthood, is possible. The prognosis is excellent once the diagnosis is established and frequent feedings are instituted to avoid any prolonged period of fasting. [from GeneReviews]

MedGen UID:
65086
Concept ID:
C0220710
Disease or Syndrome
2.

Acyl-CoA dehydrogenase deficiency

MedGen UID:
541378
Concept ID:
C0268635
Disease or Syndrome
3.

Cranioosteoarthropathy

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

Frequency

MedGen UID:
91210
Concept ID:
C0376249
Temporal Concept
5.

Muscle weakness

MedGen UID:
57735
Concept ID:
C0151786
Finding; Sign or Symptom
6.

Point mutation

A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair. [from MeSH]

MedGen UID:
56498
Concept ID:
C0162735
Cell or Molecular Dysfunction
7.

Uncertain

A measure of the inherent variability of repeated observation measurements of a quantity including quantities evaluated by statistical methods and by other means. [from NCI]

MedGen UID:
43443
Concept ID:
C0087130
Finding
8.

Hepatomegaly

MedGen UID:
42428
Concept ID:
C0019209
Finding
9.

Glucose

A primary source of energy for living organisms. It is naturally occurring and is found in fruits and other parts of plants in its free state. It is used therapeutically in fluid and nutrient replacement. [from MeSH]

MedGen UID:
42238
Concept ID:
C0017725
Biologically Active Substance; Organic Chemical; Pharmacologic Substance
10.

Carnitine

A constituent of STRIATED MUSCLE and LIVER. It is an amino acid derivative and an essential cofactor for fatty acid metabolism. [from MeSH]

MedGen UID:
40117
Concept ID:
C0007258
Amino Acid, Peptide, or Protein; Pharmacologic Substance
11.

Unspecified encephalopathy

MedGen UID:
39314
Concept ID:
C0085584
Disease or Syndrome
12.

Attention Deficit Disorder

A mental disorder characterized by inattention, easy distraction, careless mistakes and avoidance of tasks that require sustained mental focus. These behaviors can lead to maladaptive consequences in the affected individual's life. [from NCI]

MedGen UID:
22549
Concept ID:
C0041671
Mental or Behavioral Dysfunction
13.

Seizures

MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
14.

Vomiting

MedGen UID:
12124
Concept ID:
C0042963
Sign or Symptom
15.

Failure to thrive

A clinical finding indicating less than normal growth in an infant or child, or a state of global decline in an adult. [from NCI]

MedGen UID:
8773
Concept ID:
C0015544
Disease or Syndrome
16.

Lysine

A nutritional supplement containing the biologically active L-isomer of the essential amino acid lysine, with potential anti-mucositis activity. Upon oral intake, L-lysine promotes healthy tissue function, growth and healing and improves the immune system. L-Lysine promotes calcium uptake, is essential for carnitine production and collagen formation. As collagen is essential for connective tissue maintenance, this agent may also help heal mucosal wounds. This may help decrease and prevent mucositis induced by radiation or chemotherapy. [from NCI]

MedGen UID:
7421
Concept ID:
C0024337
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
17.

Lethargy

MedGen UID:
7310
Concept ID:
C0023380
Sign or Symptom
18.

Hypoglycemia

MedGen UID:
6979
Concept ID:
C0020615
Disease or Syndrome
19.

Fasting

Abstaining from all food. [from MeSH]

MedGen UID:
5129
Concept ID:
C0015663
Finding
20.

Apnea

MedGen UID:
2009
Concept ID:
C0003578
Finding; Sign or Symptom
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