Biomaterial Database

Acute intermittent porphyria with atypical neuropathy. 1991

M B Goren, and C Chen

Department of Medicine, Fairfax Hospital, Va.

The patient we have described had lower extremity numbness, paresthesias, constipation, urinary retention, and sexual dysfunction. Laboratory evaluation confirmed a diagnosis of acute intermittent porphyria (AIP). Vitamin B6 and glucose therapy initiated resolution of symptoms. The sensory neuropathy described here is unusual, and we believe sexual dysfunction is a previously unreported manifestation of AIP.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D009477	Hereditary Sensory and Autonomic Neuropathies	A group of inherited disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and clinically by loss of sensation and autonomic dysfunction. There are five subtypes. Type I features autosomal dominant inheritance and distal sensory involvement. Type II is characterized by autosomal inheritance and distal and proximal sensory loss. Type III is DYSAUTONOMIA, FAMILIAL. Type IV features insensitivity to pain, heat intolerance, and mental deficiency. Type V is characterized by a selective loss of pain with intact light touch and vibratory sensation. (From Joynt, Clinical Neurology, 1995, Ch51, pp142-4)	HSAN,HSAN Type I,HSAN Type II,HSAN Type IV,HSAN Type V,HSN Type I,HSN Type II,Insensitivity to Pain with Anhidrosis, Congenital,Neuropathies, Hereditary Sensory and Autonomic,Pain Insensitivity with Anhidrosis, Congenital,Sensory Neuropathy, Hereditary,Sensory and Autonomic Neuropathies, Hereditary,Acroosteolysis, Giaccai Type,Acroosteolysis, Neurogenic,Congenital Insensitivity to Pain with Anhidrosis,Familial Dysautonomia, Type 2,Familial Dysautonomia, Type II,Giaccai Type Acroosteolysis,HSAN (Hereditary Sensory Autonomic Neuropathy),HSAN 1,HSAN 4,HSAN 5,HSAN I,HSAN IV,HSAN V,HSAN2,HSAN5,HSANII,Hereditary Sensory And Autonomic Neuropathy IV,Hereditary Sensory Autonomic Neuropathy, Type 1,Hereditary Sensory Autonomic Neuropathy, Type 2,Hereditary Sensory Autonomic Neuropathy, Type 4,Hereditary Sensory Autonomic Neuropathy, Type 5,Hereditary Sensory Neuropathy Type 1,Hereditary Sensory Neuropathy Type I,Hereditary Sensory Neuropathy Type Ia,Hereditary Sensory Radicular Neuropathy,Hereditary Sensory Radicular Neuropathy, Recessive Form,Hereditary Sensory and Autonomic Neuropathy 4,Hereditary Sensory and Autonomic Neuropathy Type 1,Hereditary Sensory and Autonomic Neuropathy Type 2,Hereditary Sensory and Autonomic Neuropathy Type I,Hereditary Sensory and Autonomic Neuropathy Type II,Hereditary Sensory and Autonomic Neuropathy Type IV,Hereditary Sensory and Autonomic Neuropathy Type V,Hereditary Sensory and Autonomic Neuropathy, Type 4,Hereditary Sensory and Autonomic Neuropathy, Type 5,Insensitivity to Pain, Congenital, with Anhidrosis,Neurogenic Acroosteolysis,Neuropathy Hereditary Sensory Radicular, Autosomal Dominant,Neuropathy Hereditary Sensory and Autonomic Type 1,Neuropathy, Congenital Sensory,Neuropathy, Congenital Sensory, with Anhidrosis,Neuropathy, Hereditary Sensory And Autonomic, Type I,Neuropathy, Hereditary Sensory And Autonomic, Type V,Neuropathy, Hereditary Sensory Radicular, Autosomal Dominant,Neuropathy, Hereditary Sensory Radicular, Autosomal Recessive,Neuropathy, Hereditary Sensory, Type I,Neuropathy, Progressive Sensory, Of Children,Acroosteolyses, Neurogenic,Congenital Sensory Neuropathies,Congenital Sensory Neuropathy,HSANs (Hereditary Sensory Autonomic Neuropathy),HSN Type IIs,Hereditary Sensory Neuropathies,Hereditary Sensory Neuropathy,Neurogenic Acroosteolyses,Neuropathies, Congenital Sensory,Neuropathies, Hereditary Sensory,Neuropathy, Hereditary Sensory,Sensory Neuropathies, Congenital,Sensory Neuropathies, Hereditary,Sensory Neuropathy, Congenital,Type I, HSAN,Type I, HSN,Type IV, HSAN
D011164	Porphyrias	A diverse group of metabolic diseases characterized by errors in the biosynthetic pathway of HEME in the LIVER, the BONE MARROW, or both. They are classified by the deficiency of specific enzymes, the tissue site of enzyme defect, or the clinical features that include neurological (acute) or cutaneous (skin lesions). Porphyrias can be hereditary or acquired as a result of toxicity to the hepatic or erythropoietic marrow tissues.	Porphyria,Porphyrin Disorder,Disorder, Porphyrin,Disorders, Porphyrin,Porphyrin Disorders
D011736	Pyridoxine	The 4-methanol form of VITAMIN B 6 which is converted to PYRIDOXAL PHOSPHATE which is a coenzyme for synthesis of amino acids, neurotransmitters (serotonin, norepinephrine), sphingolipids, aminolevulinic acid. Although pyridoxine and Vitamin B 6 are still frequently used as synonyms, especially by medical researchers, this practice is erroneous and sometimes misleading (EE Snell; Ann NY Acad Sci, vol 585 pg 1, 1990).	Pyridoxin,Pyridoxine Hydrochloride,Pyridoxol,Pyridoxol Hydrochloride,Rodex
D005947	Glucose	A primary source of energy for living organisms. It is naturally occurring and is found in fruits and other parts of plants in its free state. It is used therapeutically in fluid and nutrient replacement.	Dextrose,Anhydrous Dextrose,D-Glucose,Glucose Monohydrate,Glucose, (DL)-Isomer,Glucose, (alpha-D)-Isomer,Glucose, (beta-D)-Isomer,D Glucose,Dextrose, Anhydrous,Monohydrate, Glucose
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328	Adult	A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available.	Adults