D-bifunctional protein deficiency
עודכן לאחרונה 4 Apr 2025
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D-bifunctional protein deficiency is a disorder that causes deterioration of nervous system functions (neurodegeneration) beginning in infancy. Newborns with D-bifunctional protein deficiency have weak muscle tone (hypotonia) and seizures. Most babies with this condition never acquire any developmental skills. Some may reach very early developmental milestones such as the ability to follow movement with their eyes or control their head movement, but they experience a gradual loss of these skills (developmental regression) within a few months. As the condition gets worse, affected children develop exaggerated reflexes (hyperreflexia), increased muscle tone (hypertonia), more severe and recurrent seizures (epilepsy), and loss of vision and hearing. Most children with D-bifunctional protein deficiency do not survive past the age of 2. A small number of individuals with this disorder are somewhat less severely affected. They may acquire additional basic skills, such as voluntary hand movements or unsupported sitting, before experiencing developmental regression, and they may survive longer into childhood than more severely affected individuals.
תיאור
D-bifunctional protein deficiency is a disorder that causes deterioration of nervous system functions (neurodegeneration) beginning in infancy. Newborns with D-bifunctional protein deficiency have weak muscle tone (hypotonia) and seizures. Most babies with this condition never acquire any developmental skills. Some may reach very early developmental milestones such as the ability to follow movement with their eyes or control their head movement, but they experience a gradual loss of these skills (developmental regression) within a few months. As the condition gets worse, affected children develop exaggerated reflexes (hyperreflexia), increased muscle tone (hypertonia), more severe and recurrent seizures (epilepsy), and loss of vision and hearing. Most children with D-bifunctional protein deficiency do not survive past the age of 2. A small number of individuals with this disorder are somewhat less severely affected. They may acquire additional basic skills, such as voluntary hand movements or unsupported sitting, before experiencing developmental regression, and they may survive longer into childhood than more severely affected individuals.
Individuals with D-bifunctional protein deficiency may have unusual facial features, including a high forehead, widely spaced eyes (hypertelorism), a lengthened area between the nose and mouth (philtrum), and a high arch of the hard palate at the roof of the mouth. Affected infants may also have an unusually large space between the bones of the skull (fontanelle). An enlarged liver (hepatomegaly) occurs in about half of affected individuals. Because these features are similar to those of another disorder called Zellweger syndrome (part of a group of disorders called the Zellweger spectrum), D-bifunctional protein deficiency is sometimes called pseudo-Zellweger syndrome.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Other names
17-beta-hydroxysteroid dehydrogenase IV deficiency
Bifunctional peroxisomal enzyme deficiency
DBP deficiency
PBFE deficiency
Peroxisomal bifunctional enzyme deficiency
Pseudo-Zellweger syndrome
Zellweger-like syndrome
Related patient information and medicines
Patient information leaflet
תסמונת נפרוטית
תסמונת נפרוטית is a condition where the 'filters' in the kidney become 'leaky' and large amounts of protein leak from the blood into the urine. The main symptom is fluid retention (oedema) which is mainly due to the low protein level in the blood. Various diseases can cause nephrotic syndrome, some more serious than others. Treatment and.
Patient information leaflet
תת-ספיגה במערכת העיכול
Gastrointestinal malabsorption syndrome means a failure to fully absorb digested foods from the gut (bowel) into your body. There are many different causes. Prolonged intestinal malabsorption may cause problems because of a lack of carbohydrates, proteins, fats, minerals and vitamins that are essential to keep you healthy. The treatment will.
Patient information leaflet
פרוטאינוריה
Proteins are molecules that are found in almost every part of the body, including in the blood. The kidneys normally have a filter which stops protein from entering the urine, except in very tiny amounts; however, kidney problems can cause higher levels of protein to be found in the urine. What is proteinuria. Proteinuria means that there is an.
Patient information leaflet
תסמונת האכלה מחדש
תסמונת האכלה מחדש was first described in Far East prisoners after the second world war when they developed heart failure after starting to eat again after a prolonged period of starvation. What is refeeding syndrome. תסמונת האכלה מחדש is a dangerous and life threatening shift of fluids and body salts (electrolytes) that can occur when.
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Patient information leaflet
דיאטת פלאוליתית (דיאטת פליאו)
Following a Paleolithic diet means eating unprocessed, fresh foods that reflect the diet of our hunter-gatherer ancestors from the Paleolithic era. Recent research suggested that risk factors for type 2 diabetes and cardiovascular disease reduced on a Paleolithic diet, but the authors felt more work wa... Paleo Diet food list There are seven.
Patient information leaflet
דיאטת דוקאן
ה דיאטת דוקאן is a weight loss plan devised by French doctor, Pierre Dukan. What is the Dukan diet. The Dukan diet was developed by Pierre Dukan. It is one of the high-protein diets in which both fats and carbohydrates are restricted. This is unlike the Atkins diet , ketogenic diet, and other low-carbohydrate:high-fat (LCHF) diets, in which fat.
קריאה נוספת והפניות
- D-bifunctional protein deficiency; MedlinePlus, National Library of Medicine.
- Ferdinandusse S, Denis S, Mooyer PA, Dekker C, Duran M, Soorani-Lunsing RJ, Boltshauser E, Macaya A, Gartner J, Majoie CB, Barth PG, Wanders RJ, Poll-The BT. Clinical and biochemical spectrum of D-bifunctional protein deficiency. Ann Neurol. 2006 Jan;59(1):92-104. doi: 10.1002/ana.20702.
- Ferdinandusse S, Ylianttila MS, Gloerich J, Koski MK, Oostheim W, Waterham HR, Hiltunen JK, Wanders RJ, Glumoff T. Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis. Am J Hum Genet. 2006 Jan;78(1):112-24. doi: 10.1086/498880. Epub 2005 Nov 15.
- McMillan HJ, Worthylake T, Schwartzentruber J, Gottlieb CC, Lawrence SE, Mackenzie A, Beaulieu CL, Mooyer PA; FORGE Canada Consortium; Wanders RJ, Majewski J, Bulman DE, Geraghty MT, Ferdinandusse S, Boycott KM. Specific combination of compound heterozygous mutations in 17beta-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency. Orphanet J Rare Dis. 2012 Nov 22;7:90. doi: 10.1186/1750-1172-7-90.
- Moller G, van Grunsven EG, Wanders RJ, Adamski J. Molecular basis of D-bifunctional protein deficiency. Mol Cell Endocrinol. 2001 Jan 22;171(1-2):61-70. doi: 10.1016/s0303-7207(00)00388-9.
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