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Phytanic acid storage disease(RDPA)

MedGen UID:
11161
Concept ID:
C0034960
Disease or Syndrome
Synonyms: Disorder of cornification 11 (phytanic acid type); Doc 11 (phytanic acid type); Herditary sensory and motor neuropathy type 4; Heredopathia atactica polyneuritiformis; HMSN 4; HMSN IV; Hypertrophic neuropathy of Refsum; PEX7-Related Refsum Disease; PHYH-Related Refsum Disease; Phytanic acid oxidase deficiency; RDPA; Refsum Disease; Refsum disease with increased pipecolic acidemia; REFSUM DISEASE, ADULT, 1; REFSUM DISEASE, CLASSIC; Rhizomelic Chondrodysplasia Punctata Type 1
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
SNOMED CT: Hereditary motor and sensory neuropathy type IV (25362006); Heredoataxic atactica polyneuritiformis (25362006); Heredoataxic hemeralopica polyneuritiformis (25362006); Hereditary motor and sensory neuropathy, type IV (25362006); HSMN IV (25362006); HSMN IV (25362006); Phytanic acid storage disease (25362006); Phytanic acid storage disease (25362006); Refsum's disease (25362006); Heredopathia atactica polyneuritiformis (25362006); Refsum syndrome (25362006); Heredoataxia hemeralopica polyneuritiformis (25362006); Refsum-Thiébaut disease (25362006); Hereditary sensory-motor neuropathy, type IV (25362006); Refsum-Thiebaut disease (25362006); HMSN IV (25362006)
 
Genes (locations): PEX7 (6q23.3); PHYH (10p13)
OMIM®: 266500
Orphanet: ORPHA773

Disease characteristics

Excerpted from the GeneReview: Refsum Disease
Refsum disease is characterized by anosmia and early-onset retinitis pigmentosa, which are both universal findings with variable combinations of neuropathy, deafness, ataxia, and ichthyosis. Onset of symptoms ranges from age seven months to older than age 50 years. Cardiac arrhythmia and heart failure caused by cardiomyopathy are potentially severe health problems which develop later in life. [from GeneReviews]
Authors:
Ronald JA Wanders  |  Hans R Waterham  |  Bart P Leroy   view full author information

Additional descriptions

From OMIM
Refsum disease is an autosomal recessive inborn error of lipid metabolism classically characterized by a tetrad of clinical abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and elevated protein levels in the cerebrospinal fluid (CSF) without an increase in the number of cells. However, not all patients show all these features. All patients have accumulation of an unusual branched-chain fatty acid, phytanic acid, in blood and tissues. Other variable features include cardiac dysfunction, nerve deafness, ichthyosis, and multiple epiphyseal dysplasia (review by Skjeldal et al., 1987). Increased levels of phytanic acid can also be found in peroxisomal biogenesis disorders; see Zellweger syndrome (see 214100) (Skjeldal et al., 1987). Infantile Refsum disease (see PBD1B, 601539) is a distinct disorder with a different phenotype and genetic basis. A phenotype clinically indistinguishable from that of classic Refsum disease (PBD9B; 614879), but with a different biochemical profile, can be caused by mutation in the gene encoding peroxin-7 (PEX7; 601757) on chromosome 6q.  http://www.omim.org/entry/266500
From GHR
Refsum disease is an inherited condition that causes vision loss, absence of the sense of smell (anosmia), and a variety of other signs and symptoms.The vision loss associated with Refsum disease is caused by an eye disorder called retinitis pigmentosa. This disorder affects the retina, the light-sensitive layer at the back of the eye. Vision loss occurs as the light-sensing cells of the retina gradually deteriorate. The first sign of retinitis pigmentosa is usually a loss of night vision, which often becomes apparent in childhood. Over a period of years, the disease disrupts side (peripheral) vision and may eventually lead to blindness.Vision loss and anosmia are seen in almost everyone with Refsum disease, but other signs and symptoms vary. About one-third of affected individuals are born with bone abnormalities of the hands and feet. Features that appear later in life can include progressive muscle weakness and wasting; poor balance and coordination (ataxia); hearing loss; and dry, scaly skin (ichthyosis). Additionally, some people with Refsum disease develop an abnormal heart rhythm (arrhythmia) and related heart problems that can be life-threatening.  https://ghr.nlm.nih.gov/condition/refsum-disease

Clinical features

Arrhythmia
MedGen UID:
2039
Concept ID:
C0003811
Finding
An arrhythmia is a problem with the rate or rhythm of your heartbeat. It means that your heart beats too quickly, too slowly, or with an irregular pattern. When the heart beats faster than normal, it is called tachycardia. When the heart beats too slowly, it is called bradycardia. The most common type of arrhythmia is atrial fibrillation, which causes an irregular and fast heart beat. Many factors can affect your heart's rhythm, such as having had a heart attack, smoking, congenital heart defects, and stress. Some substances or medicines may also cause arrhythmias. . Symptoms of arrhythmias include. -Fast or slow heart beat. -Skipping beats. -Lightheadedness or dizziness. -Chest pain. -Shortness of breath . -Sweating . Your doctor can run tests to find out if you have an arrhythmia. Treatment to restore a normal heart rhythm may include medicines, an implantable cardioverter-defibrillator (ICD) or pacemaker, or sometimes surgery. . NIH: National Heart, Lung, and Blood Institute.
Cardiomegaly
MedGen UID:
5459
Concept ID:
C0018800
Finding
Increased size of the heart.
Congestive heart failure
MedGen UID:
9169
Concept ID:
C0018802
Disease or Syndrome
Heart failure accompanied by EDEMA, such as swelling of the legs and ankles and congestion in the lungs.
Cardiomyopathy
MedGen UID:
209232
Concept ID:
C0878544
Disease or Syndrome
Cardiomyopathy is the name for diseases of the heart muscle. These diseases enlarge your heart muscle or make it thicker and more rigid than normal. In rare cases, scar tissue replaces the muscle tissue. Some people live long, healthy lives with cardiomyopathy. Some people don't even realize they have it. In others, however, it can make the heart less able to pump blood through the body. This can cause serious complications, including . - Heart failure . - Abnormal heart rhythms . - Heart valve problems. - Sudden cardiac arrest. Heart attacks, high blood pressure, infections, and other diseases can all cause cardiomyopathy. Some types of cardiomyopathy run in families. In many people, however, the cause is unknown. Treatment might involve medicines, surgery, other medical procedures, and lifestyle changes. . NIH: National Heart, Lung, and Blood Institute.
Ptosis of eyelid
MedGen UID:
2287
Concept ID:
C0005745
Anatomical Abnormality
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Miosis
MedGen UID:
6409
Concept ID:
C0026205
Disease or Syndrome
Abnormal (non-physiological) constriction of the pupil.
Nyctalopia
MedGen UID:
10349
Concept ID:
C0028077
Disease or Syndrome
Failure or imperfection of vision at night or in dim light, with good vision only on bright days. (Dorland, 27th ed)
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Retinal degeneration
MedGen UID:
48432
Concept ID:
C0035304
Finding
A retrogressive pathological change in the retina, focal or generalized, caused by genetic defects, inflammation, trauma, vascular disease, or aging. Degeneration affecting predominantly the macula lutea of the retina is MACULAR DEGENERATION. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p304)
Retinitis pigmentosa
MedGen UID:
20551
Concept ID:
C0035334
Disease or Syndrome
Retinitis pigmentosa (RP) is a group of inherited disorders in which abnormalities of the photoreceptors (rods and cones) or the retinal pigment epithelium (RPE) of the retina lead to progressive visual loss. Affected individuals first experience defective dark adaptation or "night blindness," followed by constriction of peripheral visual fields and, eventually, loss of central vision late in the course of the disease.
Cataract
MedGen UID:
39462
Concept ID:
C0086543
Acquired Abnormality
A cataract is a clouding of the lens in your eye. It affects your vision. Cataracts are very common in older people. By age 80, more than half of all Americans either have a cataract or have had cataract surgery. A cataract can occur in either or both eyes. It cannot spread from one eye to the other. Common symptoms are. -Blurry vision. -Colors that seem faded. -Glare - headlights, lamps or sunlight may seem too bright. You may also see a halo around lights. -Not being able to see well at night. -Double vision . -Frequent prescription changes in your eye wear . Cataracts usually develop slowly. New glasses, brighter lighting, anti-glare sunglasses or magnifying lenses can help at first. Surgery is also an option. It involves removing the cloudy lens and replacing it with an artificial lens. Wearing sunglasses and a hat with a brim to block ultraviolet sunlight may help to delay cataracts. NIH: National Eye Institute.
Kidney dysfunction
MedGen UID:
508816
Concept ID:
C0151746
Pathologic Function
An abnormal functionality of the kidney.
Weakness of limb
MedGen UID:
107956
Concept ID:
C0587246
Finding
Reduced strength and weakness of the muscles of the arms and legs.
Pes cavus
MedGen UID:
675590
Concept ID:
C0728829
Congenital Abnormality
The presence of an unusually high plantar arch. Also called high instep, pes cavus refers to a distinctly hollow form of the sole of the foot when it is bearing weight.
Short fourth metatarsal
MedGen UID:
336358
Concept ID:
C1848514
Anatomical Abnormality
Short fourth metatarsal bone.
Sensorineural hearing loss
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
Hearing loss resulting from damage to the COCHLEA and the sensorineural elements which lie internally beyond the oval and round windows. These elements include the AUDITORY NERVE and its connections in the BRAINSTEM.
Anosmia
MedGen UID:
1950
Concept ID:
C0003126
Sign or Symptom
An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell.
Cerebellar ataxia
MedGen UID:
849
Concept ID:
C0007758
Sign or Symptom
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- oder overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Hypesthesia
MedGen UID:
6974
Concept ID:
C0020580
Finding
An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hyesthesia) refers to a reduction in cutaneous sensation to a specific type of testing.
Hyporeflexia
MedGen UID:
195967
Concept ID:
C0700078
Sign or Symptom
Reduction of neurologic reflexes such as the knee-jerk reaction.
Peripheral sensorimotor neuropathy
MedGen UID:
207266
Concept ID:
C1112256
Disease or Syndrome
Increased CSF protein
MedGen UID:
329971
Concept ID:
C1806780
Finding
Increased concentration of protein in the cerebrospinal fluid.
Weakness of limb
MedGen UID:
107956
Concept ID:
C0587246
Finding
Reduced strength and weakness of the muscles of the arms and legs.
Elevated levels of phytanic acid
MedGen UID:
869360
Concept ID:
C4023786
Finding
An abnormal elevation of phytanic acid.
Multiple epiphyseal dysplasia
MedGen UID:
6461
Concept ID:
C0026760
Congenital Abnormality
Short fourth metatarsal
MedGen UID:
336358
Concept ID:
C1848514
Anatomical Abnormality
Short fourth metatarsal bone.
Anosmia
MedGen UID:
1950
Concept ID:
C0003126
Sign or Symptom
An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell.
Ichthyosis
MedGen UID:
7002
Concept ID:
C0020757
Disease or Syndrome
Any of several generalized skin disorders characterized by dryness, roughness, and scaliness, due to hypertrophy of the stratum corneum epidermis. Most are genetic, but some are acquired, developing in association with other systemic disease or genetic syndrome.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPhytanic acid storage disease
Follow this link to review classifications for Phytanic acid storage disease in Orphanet.

Recent clinical studies

Etiology

Lindström K, Breimer ME, Jovall PA, Lanne B, Pimlott W, Samuelsson BE
J Biochem 1992 Mar;111(3):337-45. PMID: 1587795
Wanders RJ, Boltshauser E, Steinmann B, Spycher MA, Schutgens RB, van den Bosch H, Tager JM
J Neurol Sci 1990 Aug;98(1):1-11. PMID: 1700075

Diagnosis

Weinstein R
J Clin Apher 1999;14(4):181-4. PMID: 10611628
Yamamoto S, Onozu H, Yamada N, Hayasaka S, Watanabe A
Ophthalmologica 1995;209(5):251-5. PMID: 8570147
Budden SS, Kennaway NG, Buist NR, Poulos A, Weleber RG
J Pediatr 1986 Jan;108(1):33-9. PMID: 2418187
Weleber RG, Tongue AC, Kennaway NG, Budden SS, Buist NR
Arch Ophthalmol 1984 Sep;102(9):1317-21. PMID: 6206835
Scotto JM, Hadchouel M, Odievre M, Laudat MH, Saudubray JM, Dulac O, Beucler I, Beaune P
J Inherit Metab Dis 1982;5(2):83-90. PMID: 6188882

Therapy

Weinstein R
J Clin Apher 1999;14(4):181-4. PMID: 10611628
Robertson EF, Poulos A, Sharp P, Manson J, Wise G, Jaunzems A, Carter R
Eur J Pediatr 1988 Feb;147(2):133-42. PMID: 2452736
Djupesland G, Flottorp G, Refsum S
Neurology 1983 Feb;33(2):237-40. PMID: 6185882

Clinical prediction guides

Scotto JM, Hadchouel M, Odievre M, Laudat MH, Saudubray JM, Dulac O, Beucler I, Beaune P
J Inherit Metab Dis 1982;5(2):83-90. PMID: 6188882

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