Which disorder is related to phenylketonuria PKU?

Phenylketonuria (fen-ul-key-toe-NU-ree-uh), also called PKU, is a rare inherited disorder that causes an amino acid called phenylalanine to build up in the body. PKU is caused by a defect in the gene that helps create the enzyme needed to break down phenylalanine.

Is phenylketonuria related to albinism?

Phenylketonuria (PKU) is an autosomal recessive metabolic genetic disorder characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH). The disease may present clinically with seizures, albinism (excessively fair hair and skin), and a “musty odor” to the baby’s sweat and urine.

Is PKU the same as Hyperphenylalaninemia?

Benign hyperphenylalaninemia (H-PHE) is a form of phenylketonuria (PKU). Different forms of PKU have varying severity of signs. Because H-PHE is a less severe type of PKU, babies with H-PHE typically do not show any signs.

What are the different types of PKU?

There are four types of PKU:

  • Hyperphenylalaninemia: the lowest level above normal.
  • Mild PKU: blood levels are mildly elevated.
  • Moderate or variant: levels are not low but not high.
  • Classic PKU: blood levels of phenelalanine are high.

Is PKU a metabolic disorder?

Phenylketonuria (PKU) is a rare metabolic disorder. Children with PKU can’t process an amino acid called phenylalanine. Phenylalanine is in many common foods. But it can build up in the bloodstream of children with PKU.

Is PKU heterozygous or homozygous?

In classic PKU patients, 58.4% were homozygous in comparison with only 11.1% in MHP patients. Mild PKU patients were 72.5% compound heterozygous in comparison with only 35.1% in classic PKU.

Is PKU a chromosomal disorder?

Classical PKU is an autosomal recessive disorder, caused by mutations in both alleles of the gene for phenylalanine hydroxylase (PAH), found on chromosome 12.

How is PKU related to other genetic disorders?

Changes in other genes may influence the severity of PKU, but little is known about these additional genetic factors. This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations.

What happens to the body if PKU is not treated?

If PKU is not treated, phenylalanine can build up to harmful levels in the body, causing intellectual disability and other serious health problems. The signs and symptoms of PKU vary from mild to severe. The most severe form of this disorder is known as classic PKU. Infants with classic PKU appear normal until they are a few months old.

Are there any disorders similar to phenylketonuria?

Symptoms of the following disorders can be similar to those of phenylketonuria. Comparisons may be useful for a differential diagnosis: Tetrahydrobiopterin (BH4) deficiency is a rare genetic neurological disorder of infancy. It is caused by an inherited inborn error of metabolism.

Are there any psychiatric comorbidities in the PKU cohort?

The PKU cohort experienced significantly higher rates of several comorbid neurologic, psychiatric and developmental conditions.