Homocystinuria

Homocystinuria

It is an inborn error of Methionine metabolism in which there is deficiency of enzyme cystathionine b-synthase

Homocysteine is converted to methionine. In homocystinuria there is impaired conversion of homocysteine to methionine, The sulfur atom of the essential amino acid methionine is transferred ultimately to cysteine by the transsulfuration pathway. In one of these steps, homocysteine condenses with serine to form cystathionine. This reaction is catalyzed by the pyridoxal phosphate-dependent enzyme cystathionine b-synthase.

Homocysteine and methionine accumulate in cells and body fluids; cysteine synthesis is impaired, resulting in reduced concentrations of this amino acid and its disulfide form cystine.

Homocystinuria is relatively common in Ireland (1 in 60,000 births) but rare elsewhere (less than 1 in 200,000 births).

This genetic defect is also seen in consanguineous marriages.

Features:
Mental retardation
Venous thromboses- a major cause of morbidity
Osteoporosis
Hair often fine & brittle. Malar flush. Ectopia lentis, myopia.
Convulsions in about 10%. Psychiatric disturbances.
Skeletal features resembling Marfan syndrome – in 50 % of cases.

Diagnosis:
Detection of Homocysteine in urine.

Range of Homocysteine.in blood

  • Normal ( Male) : – 8.0 – 14.0 mmol/L
  • Normal (Female) : – 6.0 -12.0 mmol/L
  • Moderate homocystenaemia : – 16-30 mmol/L
  • Intermediate homocystenaemia : – 31-100 mmol/L
  • Severe homocystenaemia : – > 100 mmol/L

Treatment:
Pyridoxine 20-300 mg per day.

Restricted intake of methionine plus cystine supplements.
Administration of choline or betaine to enhance remethylation of homocystine

Homocysteine is an amino acid that’s normally produced in the body in small amounts from the amino acid methionine. Homocysteine’s role in the body is to control growth, and support bone and tissue formation.
Scientists have known that people with high concentrations of the amino acid homocysteine in the blood are at a much higher risk for stroke and heart disease. When homocysteine levels rise, they begin to damage arteries and stimulate growth of arteriosclerotic plaques which leads to heart disease.

High levels of homocysteine can be caused by

  • Vitamin deficiencies
  • Normal aging
  • Thyroid problems
  • Kidney disease
  • Genetic disorders like Homocystinuria.

Study shows folic acid and vitamins B6 and B12 can decrease homocysteine concentrations in the blood – reducing the risk of heart disease.

Anyone who has a high risk for heart disease either from family history or poor nutritional background, or who has early signs of heart disease probably should take vitamin supplements to control their homocysteine level and stop the arteriosclerotic process.

Severe deficiency of Folic Acid, vitamin B6 and B12 in the elderly may result in elevated serum homocysteine levels. Its a new risk factor for the Cardiac disease. Deficiency of each one of these vitamins may lead to accumulation of homocysteine which is known to have toxic effect on the vascular tissue.

A study found high levels of homocysteine in second generation Indian immigrants as compared to Europeans.

Folic acid rich foods are – Pulses, dried beans, green leafy vegetables.

Pyridoxine ~ Vitamin B6

Advertisements
This entry was posted in Diseases & Conditions and tagged , , by Manbir & Gurpreet. Bookmark the permalink.

About Manbir & Gurpreet

Gurpreet Kaur’s journey in this world .... Gurpreet Kaur was a Musician. She was a singer and a composer of music. Her interest was composing and singing Gurbani Shabads in Indian Classical style. She sang Shabads in All the Raags mentioned in Sri Guru Granth Sahib Ji. She also taught Gurmat Sangeet at Gurmat Gian Missionary College, Jawadi, Ludhiana. Elder child to Pushpinder Kaur and Dr. Brig. Harminder Singh, was born in Amritsar on 13th Jan 1962. She attended various convent schools as a child because her father would get frequent Army postings as a dental surgeon. She graduated with Music Honors from Govt. College for Women, Chandigarh. Music was her hobby and she composed and sang Raag based Gurbani Shabads. Doing Kirtan was part of growing up nurtured by her parents. She learned music from her father Dr. Brigadier Harminder Singh who was a dental surgeon in Indian Army and a very good singer himself. Gurpreet’s Bhua (father’s sister), Ajit Kaur retied as a Head of Department of Music from Govt. College for Women Ludhiana, and was a renounced Punjabi singer of her time. Gurpreet Kaur also learned nuances of Indian Classical Music from Pandita Sharma. She was a mother of three children, and a grandmother. Her daughter Keerat Kaur is a Computer Engineer. Her two sons Gurkeerat Singh and Jaskeerat Singh are doctors in USA. Her daughter Keerat Kaur too was part of her group ~ Gurmat Gian Group. Gurpreet Kaur left this world at the age of 54yrs on 12th Sept 2016 in Baltimore USA. She had recorded around 25 cds of Gurbani Keertan. 'Raag Ratan' Album (6 CDs) is a Compilation of Shabads in All the 31 Sudh Raags of Sri Guru Granth Sahib Ji. 'Gauri Sagar' Album (3 CDs) is a Compilation of All forms of Raag Gauri in Sri Guru Granth Sahib Ji. 'Nanak Ki Malhaar' ~ ((3 CDs) is an album of Raag Malhar Shabads in various forms of Malhar. 'Gur Parsaad Basant Bana' ~ (3 CDs) is an album of Shabads in Raag Basant sung in various forms of Raag Basant. Har Ki Vadeyai Sarni Aayea Sewa Priya Kee Preet Piyaree Mohan Ghar Aavho Karo Jodariya Mo Kao Taar Le Raama Taar Le Tere Kavan Kavan Gun Keh Keh Gawan Mera Baid Guru Govinda Saajanrraa Mera Saajanrraa

Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out /  Change )

Google+ photo

You are commenting using your Google+ account. Log Out /  Change )

Twitter picture

You are commenting using your Twitter account. Log Out /  Change )

Facebook photo

You are commenting using your Facebook account. Log Out /  Change )

w

Connecting to %s