Porphyria, Acute Hepatic

External Ids:

OMIM 57 612740 Orphanet 59 ORPHA330015 ORPHA100924 ICD10 via Orphanet 34 T56.0 E80.2 UMLS via Orphanet 74 C0023176

MedGen 42 C0268328 C2748608 MeSH 44 D017094 SNOMED-CT via HPO 69 258211005 69322001 95662005 128613002 246545002 313307000 84757009 91175000 398151007 398152000 127377003 20022000 302226006 42345000 42658009 36440009 432788009 61261009 249497008 300359004 422400008 267060006 62315008 14760008 225595004 21522001 409623005 64228003 91019004 9991008 more UMLS 73 C0268328

MedlinePlus : ⁴³ Lead is a metal that occurs naturally in the earth's crust. Lead can be found in all parts of our environment. Much of it comes from human activities such as mining and manufacturing. Lead used to be in paint; older houses may still have lead paint. You could be exposed to lead by Eating food or drinking water that contains lead. Water pipes in older homes may contain lead. Working in a job where lead is used Using lead in a hobby, such as making stained glass or lead-glazed pottery Using folk remedies such as herbs or foods that contain lead Breathing air, drinking water, eating food, or swallowing or touching dirt that contains lead can cause many health problems. Lead can affect almost every organ and system in your body. In adults, lead can increase blood pressure and cause infertility, nerve disorders, and muscle and joint pain. It can also make you irritable and affect your ability to concentrate and remember. Lead is especially dangerous for children. A child who swallows large amounts of lead may develop anemia, severe stomachache, muscle weakness, and brain damage. Even at low levels, lead can affect a child's mental and physical growth. Agency for Toxic Substances Disease Registry

MalaCards based summary : Porphyria, Acute Hepatic, also known as porphobilinogen synthase deficiency, is related to coproporphyria, hereditary and aminolevulinic acid dehydratase deficiency porphyria, and has symptoms including vomiting and muscle weakness. An important gene associated with Porphyria, Acute Hepatic is ALAD (Aminolevulinate Dehydratase). Affiliated tissues include brain, liver and skin, and related phenotypes are psychosis and sensory neuropathy

OMIM : ⁵⁷ ALAD porphyria is a rare autosomal recessive disorder that has been reported and confirmed by genetic analysis in only 5 patients (Jaffe and Stith, 2007). (612740)

CDC : ³ Today at least 4 million households have children living in them that are being exposed to high levels of lead. There are approximately half a million U.S. children ages 1-5 with blood lead levels above 5 micrograms per deciliter (µg/dL), the reference level at which CDC recommends public health actions be initiated.

UniProtKB/Swiss-Prot : ⁷⁵ Acute hepatic porphyria: A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. AHP is characterized by attacks of gastrointestinal disturbances, abdominal colic, paralyses and peripheral neuropathy. Most attacks are precipitated by drugs, alcohol, caloric deprivation, infections, or endocrine factors.

Wikipedia : ⁷⁶ Lead poisoning is a type of metal poisoning caused by lead in the body. The brain is the most sensitive.... more...

Clinical features from OMIM:

612740

Search NIH Clinical Center for Porphyria, Acute Hepatic

Search GEO for disease gene expression data for Porphyria, Acute Hepatic.