Diseases » Peroxisomal bifunctional enzyme deficiency » Introduction

Peroxisomal bifunctional enzyme deficiency

Peroxisomal bifunctional enzyme deficiency: Introduction

Peroxisomal bifunctional enzyme deficiency: A rare disorder involving abnormal steroid metabolism due to an enzyme 17-beta-hydroxysteroid dehydrogenase 4) deficiency. The symptoms which make the condition appear very similar to another condition called neonatal adrenoleukodystrophy. More detailed information about the symptoms, causes, and treatments of Peroxisomal bifunctional enzyme deficiency is available below.

Symptoms of Peroxisomal bifunctional enzyme deficiency

• Increased level of very long chain fatty acids
• Seizures
• Large head
• Infant breathing problems
• Large fontanels
• more symptoms...»

See full list of 36 symptoms of Peroxisomal bifunctional enzyme deficiency

Wrongly Diagnosed with Peroxisomal bifunctional enzyme deficiency?

• Misdiagnosis of Peroxisomal bifunctional enzyme deficiency

Peroxisomal bifunctional enzyme deficiency: Complications

Read more about complications of Peroxisomal bifunctional enzyme deficiency.

Causes of Peroxisomal bifunctional enzyme deficiency

Read more about causes of Peroxisomal bifunctional enzyme deficiency.

Less Common Symptoms of Peroxisomal bifunctional enzyme deficiency

• Abnormal knee calcification
• Abnormal shoulder calcification
• more symptoms...»

Read more about symptoms of Peroxisomal bifunctional enzyme deficiency

Misdiagnosis and Peroxisomal bifunctional enzyme deficiency

Vitamin B12 deficiency under-diagnosed: The condition of Vitamin B12 deficiency is a possible misdiagnosis of various conditions, such as multiple sclerosis (see symptoms of multiple...read more »

Read more about Misdiagnosis and Peroxisomal bifunctional enzyme deficiency

Prognosis for Peroxisomal bifunctional enzyme deficiency

Prognosis for Peroxisomal bifunctional enzyme deficiency: death usually within a few years

More about prognosis of Peroxisomal bifunctional enzyme deficiency

Statistics for Peroxisomal bifunctional enzyme deficiency

• Medical statistics for Peroxisomal bifunctional enzyme deficiency
• Prevalence and incidence statistics for Peroxisomal bifunctional enzyme deficiency
• Death and Mortality statistics for Peroxisomal bifunctional enzyme deficiency
• Society statistics for Peroxisomal bifunctional enzyme deficiency

Peroxisomal bifunctional enzyme deficiency: Broader Related Topics

• Genetic conditions
• Metabolic conditions
• Congenital conditions - metabolic disorders
• Congenital conditions
• more types...»

Types of Peroxisomal bifunctional enzyme deficiency

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Definitions of Peroxisomal bifunctional enzyme deficiency:

Peroxisomal bifunctional enzyme deficiency is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Peroxisomal bifunctional enzyme deficiency, or a subtype of Peroxisomal bifunctional enzyme deficiency, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

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