How is isovaleric acidemia diagnosed?

How is isovaleric acidemia diagnosed?

In the United States and some developed countries, isovaleric acidemia is routinely identified by newborn screening through a blood test called tandem mass spectrometry, often designated as MS/MS. In other countries, the diagnosis must be suspected clinically before it can be diagnosed.

What does Isovaleric mean?

noun. : a metabolic disorder characterized by the presence of an abnormally high concentration of isovaleric acid in the blood causing acidosis, coma, and an unpleasant body odor.

What does isovaleric acid smell like?

In isovaleric acidemia, the odor is described as that of ‘sweaty feet’ rather than that of maple syrup. Most will die within 3 weeks of ketoacidosis, hemorrhagic diatheses due to pancytopenia, or an intercurrent infection.

Is isovaleric acidemia fatal?

In severe cases, the features of isovaleric acidemia become apparent within a few days after birth. The initial symptoms include poor feeding, vomiting, seizures, and lack of energy (lethargy). These symptoms sometimes progress to more serious medical problems, including seizures, coma, and possibly death.

How is MCAD treated?

Taking simple carbohydrates, such as sugar (glucose) tablets or sweetened, nondiet beverages. Seeking emergency medical care if unable to eat or for diarrhea or vomiting. An intravenous (IV) line for extra glucose and additional treatment may be needed.

Where is isovaleric acid found?

It is a conjugate acid of an isovalerate. Isovaleric acid is a natural product found in Nepeta nepetella, Thymus longicaulis, and other organisms with data available. Isopentanoic acid is a colorless liquid with a penetrating odor. It is slightly soluble in water.

What is Vlcadd?

Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is a rare genetic disorder of fatty acid metabolism that is transmitted in an autosomal recessive pattern. It occurs when an enzyme needed to break down certain very long-chain fatty acids is missing or not working properly.

What are symptoms of MCAD?


  • Vomiting.
  • Low energy (lethargy) or being overly sleepy (somnolent)
  • Weakness or low muscle tone (hypotonia)
  • Low blood sugar (hypoglycemia)
  • Trouble breathing or fast breathing (tachypnea)
  • Liver abnormalities (enlargement, high liver enzymes)
  • Seizures.

What causes acidemia?

Acidosis is classified as either respiratory or metabolic acidosis. Respiratory acidosis develops when there is too much carbon dioxide (an acid) in the body. This type of acidosis is usually caused when the body is unable to remove enough carbon dioxide through breathing.

What are the properties of isovaleric acid?

3D Structure for HMDB0000718 (Isovaleric acid)

Property Value Reference
Melting Point -29.3 °C Not Available
Boiling Point 175.00 to 177.00 °C. @ 760.00 mm Hg The Good Scents Company Information System
Water Solubility 40.7 mg/mL Not Available
LogP 1.16 HANSCH,C ET AL. (1995)

How is isovaleric acid made?

Isovaleric acid is the product of leucine fermentation (Blakeney et al. 2019). The other branched-chain amino acids (BCAAs), valine and isoleucine, break down into the BCFAs isobutyric acid, 2-methylbutyric acid respectively.

How is MCAD deficiency diagnosed?

MCAD deficiency is diagnosed through newborn screening followed by genetic testing. Newborn screening. In the U.S., all states screen for MCAD deficiency at birth. If screening levels are abnormal, additional testing can be done.

What is Lchad deficiency?

Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is a rare condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting).

What is the treatment for MCAD?

What is the difference between aciduria and acidemia?

Organic acidemias, also known as organic acidurias, are a class of inborn errors of metabolism characterized by accumulation of abnormal (and usually toxic) organic acid metabolites and increased excretion of organic acids in urine.

What is the PH of isovaleric acid?

Isovaleric acid Properties

Melting point -29 °C (lit.)
pka 4.77(at 25℃)
color Clear colorless to slightly yellow
Specific Gravity 0.928 (20/20℃)
PH 3.92(1 mM solution);3.4(10 mM solution);2.89(100 mM solution);