Mercaptolactate-cysteine disulfiduria, also called Ampola syndrome, is a rare inherited disorder caused by deficiency of the enzyme 3-mercaptopyruvate sulfurtransferase, leading to excess mercaptolactate-cysteine disulfide in the urine. It has been linked to a high forehead, seizures, abnormally long fingers, knock-knees, underdeveloped ear cartilage, and umbilical hernia, with mutations traced to the MPST gene on chromosome 22.
Facts
Classification
ICD-10 ChapterIV: Endocrine, Nutritional and Metabolic Diseases 1 Communicable or Non-communicable Transmission Route Sources
1. Wikipedia: ICD-10
WikipediaList of chapters, Chapter IVQuote, List of chapters, Chapter IV
Endocrine, nutritional and metabolic diseases
2. World Health Organization: Noncommunicable diseases (fact sheet)
World Health OrganizationLead section, transmission-route statement (inferred from disease-category)
The main types of NCDs are cardiovascular diseases (such as heart attacks and stroke), cancers, chronic respiratory diseases (such as chronic obstructive pulmonary disease and asthma) and diabetes.
Main Types section
The main types of NCDs are cardiovascular diseases (such as heart attacks and stroke), cancers, chronic respiratory diseases (such as chronic obstructive pulmonary disease and asthma) and diabetes.
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