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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Tetrahydrobiopterin deficiency


Other Names for this Disease

  • BH4 deficiency
  • Hyperphenylalaninemia caused by a defect in biopterin metabolism
  • Hyperphenylalaninemia, non-phenylketonuric
  • Non-phenylketonuric hyperphenylalaninemia
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Symptoms

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What are the signs and symptoms of tetrahydrobiopterin deficiency?

Infants with tetrahydrobiopterin (BH4) deficiency typically appear normal and healthy at birth.[1][2] Neurological signs and symptoms usually become apparent over time, and can range from mild to severe.[3][2] These may include abnormal muscle tone; poor sucking and coordination; seizures; and delayed motor development.[1] Other manifestations may include decreased spontaneous movements and difficulty swallowing.[3][2]

Without early and appropriate treatment, signs and symptoms progress and affected individuals may experience irreversible intellectual disability, behavioral problems, an inability to control body temperature, and even death in severe cases.[3][1]
Last updated: 11/2/2012

The Human Phenotype Ontology provides the following list of signs and symptoms for Tetrahydrobiopterin deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Cognitive impairment 90%
Microcephaly 90%
Abnormality of eye movement -
Ataxia -
Autosomal recessive inheritance -
Autosomal recessive inheritance -
Autosomal recessive inheritance -
Autosomal recessive inheritance -
Bradykinesia -
Cerebral calcification -
Choreoathetosis -
Choreoathetosis -
Choreoathetosis -
Dysphagia -
Dysphagia -
Dysphagia -
Dystonia -
Dystonia -
Dystonia -
Episodic fever -
Episodic fever -
Episodic fever -
Hyperkinesis -
Hyperphenylalaninemia -
Hyperphenylalaninemia -
Hyperphenylalaninemia -
Hyperphenylalaninemia -
Hyperreflexia -
Hypertonia -
Hypertonia -
Infantile onset -
Infantile onset -
Intellectual disability -
Intellectual disability, progressive -
Intellectual disability, progressive -
Irritability -
Irritability -
Irritability -
Lethargy -
Limb hypertonia -
Microcephaly -
Motor delay -
Muscular hypotonia -
Muscular hypotonia -
Muscular hypotonia of the trunk -
Myoclonus -
Parkinsonism -
Poor suck -
Progressive neurologic deterioration -
Progressive neurologic deterioration -
Progressive neurologic deterioration -
Rigidity -
Rigidity -
Seizures -
Seizures -
Seizures -
Severe muscular hypotonia -
Small for gestational age -
Somnolence -
Transient hyperphenylalaninemia -
Tremor -
Tremor -
Tremor -
Tremor -
Variable expressivity -
Variable expressivity -

Last updated: 9/2/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Tetrahydrobiopterin Deficiency. NORD. May 23, 2008; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/438/viewAbstract. Accessed 10/31/2012.
  2. Noah S Scheinfeld. Tetrahydrobiopterin Deficiency. Medscape Reference. June 27, 2012; http://emedicine.medscape.com/article/949470-overview. Accessed 11/2/2012.
  3. Tetrahydrobiopterin deficiency. Genetics Home Reference. July 2011; http://ghr.nlm.nih.gov/condition/tetrahydrobiopterin-deficiency. Accessed 11/2/2012.


Other Names for this Disease
  • BH4 deficiency
  • Hyperphenylalaninemia caused by a defect in biopterin metabolism
  • Hyperphenylalaninemia, non-phenylketonuric
  • Non-phenylketonuric hyperphenylalaninemia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.