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Infantile Refsum Disease (Infantile Phytanic Acid Storage Disease)

An early onset form of phytanic acid storage disease with clinical and biochemical signs different from those of REFSUM DISEASE. Features include MENTAL RETARDATION; SENSORINEURAL HEARING LOSS; OSTEOPOROSIS; and severe liver damage. It can be caused by mutation in a number of genes encoding proteins involving in the biogenesis or assembly of PEROXISOMES.
Also Known As:
Infantile Phytanic Acid Storage Disease; Refsum Disease, Infantile; Infantile Form of Phytanic Acid Storage Disease; Infantile Refsum's Disease; Refsum Disease, Infantile Form; Refsum's Disease, Infantile; Disease, Infantile Refsum; Disease, Infantile Refsum's; Infantile Refsums Disease; Refsums Disease, Infantile
Networked: 78 relevant articles (0 outcomes, 2 trials/studies)

Disease Context: Research Results

Related Diseases

1. Zellweger Syndrome (Zellweger's Syndrome)
2. Peroxisomal Disorders (Peroxisomal Disorder)
3. Adrenoleukodystrophy (Adrenoleukodystrophy, X-Linked)
4. Rhizomelic Chondrodysplasia Punctata
5. Refsum Disease (Refsum's Disease)

Experts

1. Wanders, R J: 2 articles (01/2005 - 10/2000)
2. Duong, Ryan: 1 article (01/2021)
3. Elghawy, Omar: 1 article (01/2021)
4. Shildkrot, Eugene Y: 1 article (01/2021)
5. Wilson, William G: 1 article (01/2021)
6. Zhang, Alice Y: 1 article (01/2021)
7. Shimura, Mai: 1 article (01/2020)
8. Warren, Mikako: 1 article (01/2020)
9. Wartchow, Eric P: 1 article (01/2020)
10. Yano, Shoji: 1 article (01/2020)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Infantile Refsum Disease:
1. CatalaseIBA
2. Lipoproteins (Lipoprotein)IBA
3. Fatty Acids (Saturated Fatty Acids)IBA
4. Phytanic AcidIBA
5. EnzymesIBA
6. PlasmalogensIBA
7. Bile Acids and Salts (Bile Acids)IBA
8. Proteins (Proteins, Gene)FDA Link
12/01/2008 - "Urine from 7 patients with PBDs (5 Zellweger syndrome, 2 infantile Refsum disease), from 2 patients with D-bifunctional protein (D-BP) deficiency, and from 130 healthy controls were analysed by ESI-MS/MS, using a multiple reactions monitoring (MRM) method, and quantified with labelled internal standards. "
07/14/2006 - "The impaired protein import was restored at 30 degrees C, indicating a temperature-sensitive phenotype, similar to that of cells derived from patients with milder peroxisome biogenesis disorders such as infantile Refsum disease. "
04/26/2002 - "We analyzed LTB(4), LTE(4), and their oxidation products in urine of patients with Infantile Refsum's disease (IRD), d-bifunctional protein (DBP) deficiency, Rhizomelic Chondrodysplasia Punctata (RCDP) type 1, and X-linked adrenoleukodystrophy (XALD). "
05/01/1995 - "Considering that the common cellular phenotype of Zellweger syndrome, neonatal adrenoleukodystrophy and infantile Refsum's disease has been proposed to be a complete defect in peroxisomal matrix protein import, the observation that 85% (40/47) of the type-3 cell lines imported a low but detectable amount of both PTS1 and PTS2 proteins was surprising. "
10/01/2000 - "Peroxisome biogenesis disorders (PBD), including Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease, are a group of genetically heterogeneous autosomal-recessive diseases caused by mutations in PEX genes that encode peroxins, proteins required for peroxisome biogenesis. "
9. AcidsIBA
10. Acyl-CoA OxidaseIBA
01/01/1989 - "Peroxisomal disorders, a group of genetic diseases caused by peroxisomal dysfunction, can be classified into three groups: (1) disorders of peroxisome biogenesis with a generalized loss of peroxisomal functions (Zellweger syndrome, neonatal adrenoleukodystrophy, infantile Refsum disease, hyperpipecolic acidaemia); (2) disorders with a loss of multiple peroxisomal functions (rhizomelic chondrodysplasia punctata and Zellweger-like syndrome; (3) disorders with loss of a single peroxisomal function (X-linked adrenoleukodystrophy, peroxisomal thiolase deficiency, bifunctional protein deficiency, acyl-CoA oxidase deficiency, classic Refsum disease, hyperoxaluria type I and acatalasaemia). "
12/01/1997 - "In the liver of affected fetuses, the microscopic features associated with the defect can already be recognized; i.e., either catalase containing peroxisomes are absent and catalase is localized in the cytoplasm (in fetuses affected with Zellweger syndrome or with infantile Refsum disease) or peroxisomes are present but they are abnormally enlarged (e.g., a fetus affected with acyl-CoA oxidase deficiency). "
12/01/1988 - "These diseases include: (1) those in which peroxisomes are virtually absent leading to a generalized impairment of peroxisomal functions (the cerebro-hepato-renal syndrome of Zellweger, neonatal adrenoleukodystrophy, infantile Refsum disease and hyperpipecolic acidaemia); (2) those in which peroxisomes are present and several peroxisomal functions are impaired (the rhizomelic form of chondrodysplasia punctata, combined peroxisomal beta-oxidation enzyme protein deficiency); and (3) those in which peroxisomes are present and only a single peroxisomal function is impaired (X-linked adrenoleukodystrophy, peroxisomal thiolase deficiency (pseudo-Zellweger syndrome), acyl-CoA oxidase deficiency (pseudo-neonatal adrenoleukodystrophy) and probably, the classic form of Refsum disease."
01/01/1999 - "VLCFA levels were increased in all patients homozygous for Zellweger syndrome, neonatal adrenoleukodystrophy, infantile Refsum's disease, and in patients with deficiencies of peroxisomal acyl-coenzyme A oxidase, bifunctional enzyme, and 3-oxoacyl-coenzyme A thiolase. "
08/01/1986 - "In this paper we show that catalase-containing particles (peroxisomes), alkyl dihydroxyacetone phosphate synthase and acyl-CoA oxidase protein are deficient in patients with infantile Refsum disease. "

Therapies and Procedures

1. Liver Transplantation
2. Transplantation