Vitamin B7 deficiency - Revision history

ClaireLewis at 17:02, 29 September 2019

2019-09-29T17:02:09Z

← Revisión anterior		Revisión del 17:02 29 sep 2019
Línea 22:		Línea 22:
	==Clinical Features==		==Clinical Features==
	===Classical Presentation===		===Classical Presentation===
	* Dermatitis - specifically around eyes, nose, mouth		* [[rash\|Dermatitis]] - specifically around eyes, nose, mouth
	* Alopecia		* [[Alopecia]]
	* Enteritis ([[diarrhea[[, [[nausea/vomiting]]]]		* Enteritis ([[diarrhea]], [[nausea/vomiting]])
	* Neurological - including [[AMS]], lethargy, [[hallucinations]], [[paresthesias]]		* Neurological - including [[AMS]], [[lethargy]], [[hallucinations]], [[paresthesias]]

	===Holocarboxylase Synthetase Deficiency===		===Holocarboxylase Synthetase Deficiency===
	Presents in the first week of life with:		Presents in the first week of life with:
	* Lethargy		* [[altered mental status (peds)\|Lethargy]]
	* Hypotonia		* Hypotonia
	* [[Vomiting]]		* [[Vomiting]]
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	===Biotinidase Deficiency===		===Biotinidase Deficiency===
	Presents later in life with:		Presents later in life with:
	* Dermatitis		* [[rash\|Dermatitis]]
	* Neurological symptoms - [[ataxia]], [[seizures]], myoclonus, [[nystagmus]]		* Neurological symptoms - [[ataxia]], [[seizures]], myoclonus, [[nystagmus]]
	* [[Ketonemia\|Ketoacidosis]]		* [[Ketonemia\|Ketoacidosis]]

ClaireLewis at 19:18, 27 January 2019

2019-01-27T19:18:39Z

← Revisión anterior		Revisión del 19:18 27 ene 2019
Línea 24:		Línea 24:
	* Dermatitis - specifically around eyes, nose, mouth		* Dermatitis - specifically around eyes, nose, mouth
	* Alopecia		* Alopecia
	* Enteritis		* Enteritis ([[diarrhea[[, [[nausea/vomiting]]]]
	* Neurological - including [[AMS]], lethargy, [[hallucinations]], [[paresthesias]]		* Neurological - including [[AMS]], lethargy, [[hallucinations]], [[paresthesias]]

	===Holocarboxylase Synthetase Deficiency===		===Holocarboxylase Synthetase Deficiency===
	Presents in the first week of life with:		Presents in the first week of life with:
	* ~~lethargy~~		* Lethargy
	* ~~hypotonia~~		* Hypotonia
	* ~~vomiting~~		* [[Vomiting]]

	===Biotinidase Deficiency===		===Biotinidase Deficiency===
	Presents later in life with:		Presents later in life with:
	* ~~dermatitis~~		* Dermatitis
	* ~~neurological~~ symptoms - [[ataxia]], [[seizures]], myoclonus, nystagmus		* Neurological symptoms - [[ataxia]], [[seizures]], myoclonus, [[nystagmus]]
	* ~~ketoacidosis~~		* [[Ketonemia\|Ketoacidosis]]

	==Differential Diagnosis==		==Differential Diagnosis==
Línea 48:		Línea 48:
	** Pyruvate Carboxylase Deficiency		** Pyruvate Carboxylase Deficiency
	* Starvation		* Starvation
	* Medication Use - Antibiotics or ~~Anti-convulsants~~		* Medication Use - [[Antibiotics]] or [[anticonvulsants]]
	* Other vitamin deficiencies:		* Other vitamin deficiencies:

Línea 79:		Línea 79:

	==Management==		==Management==
	* Supplementation of Biotin. Dosage is debated:		* Supplementation of [[Biotin]]. Dosage is debated:
	** 150 ug intramuscular injection suggested		** 150 ug intramuscular injection suggested
	** 5-20 mg/dl have also been used		** 5-20 mg/dl have also been used

	* Stop consumption of raw eggs.		* Stop consumption of raw eggs.
	* Stop anti-convulsant or anti-biotic ~~use.~~		* Stop culprit anti-convulsant or anti-biotic

	==Disposition==		==Disposition==
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	==See Also==		==See Also==
			*[[Vitamin deficiencies]]
			*[[Inborn errors of metabolism]]

	==External Links==		==External Links==

Rossdonaldson1: /* Vitamin deficiencies */

2017-09-19T12:18:13Z

Vitamin deficiencies

← Revisión anterior		Revisión del 12:18 19 sep 2017
Línea 58:		Línea 58:
	***[[Wernicke-Korsakoff syndrome]]		***[[Wernicke-Korsakoff syndrome]]
	**[[Vitamin B3 deficiency]] ([[Pellagra]])		**[[Vitamin B3 deficiency]] ([[Pellagra]])
	**[[Vitamin B7 deficiency]]		**[[Vitamin B7 deficiency]] (Biotin)
	**[[Vitamin B9 deficiency]] (Folate)		**[[Vitamin B9 deficiency]] (Folate)
	**[[Vitamin B12 deficiency]]		**[[Vitamin B12 deficiency]]

Rossdonaldson1: /* Vitamin deficiencies */

2017-09-19T12:17:52Z

Vitamin deficiencies

← Revisión anterior		Revisión del 12:17 19 sep 2017
Línea 58:		Línea 58:
	***[[Wernicke-Korsakoff syndrome]]		***[[Wernicke-Korsakoff syndrome]]
	**[[Vitamin B3 deficiency]] ([[Pellagra]])		**[[Vitamin B3 deficiency]] ([[Pellagra]])
			**[[Vitamin B7 deficiency]]
	**[[Vitamin B9 deficiency]] (Folate)		**[[Vitamin B9 deficiency]] (Folate)
	**[[Vitamin B12 deficiency]]		**[[Vitamin B12 deficiency]]

Rossdonaldson1: /* * Biotinidase Deficiency */

2017-09-19T12:17:23Z

* Biotinidase Deficiency

← Revisión anterior		Revisión del 12:17 19 sep 2017
Línea 33:		Línea 33:
	* vomiting		* vomiting

	===* Biotinidase Deficiency===		===Biotinidase Deficiency===
	Presents later in life with:		Presents later in life with:
	* dermatitis		* dermatitis

Rossdonaldson1: /* Clinical Features */

2017-09-19T12:17:15Z

Clinical Features

← Revisión anterior		Revisión del 12:17 19 sep 2017
Línea 21:		Línea 21:

	==Clinical Features==		==Clinical Features==
	* Classical Presentation:		===Classical Presentation===
	** Dermatitis - specifically around eyes, nose, mouth		* Dermatitis - specifically around eyes, nose, mouth
	** Alopecia		* Alopecia
	** Enteritis		* Enteritis
	** Neurological - including AMS, lethargy, hallucinations, paresthesias		* Neurological - including [[AMS]], lethargy, [[hallucinations]], [[paresthesias]]
	* Holocarboxylase Synthetase Deficiency ~~- presents~~ in the first week of life with:
	** lethargy		===Holocarboxylase Synthetase Deficiency===
	** hypotonia		Presents in the first week of life with:
	** vomiting		* lethargy
	* Biotinidase Deficiency ~~- presents~~ later in life with:		* hypotonia
	** dermatitis		* vomiting
	** neurological symptoms - ataxia, seizures, myoclonus, nystagmus
	** ketoacidosis		===* Biotinidase Deficiency===
			Presents later in life with:
			* dermatitis
			* neurological symptoms - [[ataxia]], [[seizures]], myoclonus, nystagmus
			* ketoacidosis

	==Differential Diagnosis==		==Differential Diagnosis==

Rossdonaldson1: /* Secondary biotin deficiency (Multiple Carboxylase Deficiency) */

2017-09-19T11:02:05Z

Secondary biotin deficiency (Multiple Carboxylase Deficiency)

← Revisión anterior		Revisión del 11:02 19 sep 2017
Línea 16:		Línea 16:

	===Secondary biotin deficiency (Multiple Carboxylase Deficiency)===		===Secondary biotin deficiency (Multiple Carboxylase Deficiency)===
	is caused by two inherited defects in metabolism:		Is caused by two inherited defects in metabolism:
	# Holocarboxylase Synthetase Deficiency - Autosomal Recessive disorder. Holocarboxylase Synthetase is required to attach biotin to other molecules. Deficiency in this enzyme prevents cells from using Biotin.		# Holocarboxylase Synthetase Deficiency - Autosomal Recessive disorder. Holocarboxylase Synthetase is required to attach biotin to other molecules. Deficiency in this enzyme prevents cells from using Biotin.
	# Biotinidase Deficiency - Biotinidase is required to release Biotin that is bounded to protein.		# Biotinidase Deficiency - Biotinidase is required to release Biotin that is bounded to protein.

Rossdonaldson1 at 21:55, 17 September 2017

2017-09-17T21:55:44Z

← Revisión anterior		Revisión del 21:55 17 sep 2017
Línea 4:		Línea 4:
	* Intestinal flora synthesizes significant quantities of biotin.		* Intestinal flora synthesizes significant quantities of biotin.
	* Biotin is recycled in the body and eventually lost in urine and feces.		* Biotin is recycled in the body and eventually lost in urine and feces.
	* Biotin (Vitamin B7) is a cofactor in four major carboxylation reactions
			===Cofactor in four major carboxylation reactions===
	# Acetyl-CoA Carboxylase (ACC) - Acetyl-CoA to Malonyl-CoA in Fatty Acid Synthesis		# Acetyl-CoA Carboxylase (ACC) - Acetyl-CoA to Malonyl-CoA in Fatty Acid Synthesis
	# Pyruvate Carboxylase (PC) - Pyruvate to Oxaloacetate in Gluconeogenesis		# Pyruvate Carboxylase (PC) - Pyruvate to Oxaloacetate in Gluconeogenesis
	# Propinoyl-CoA Carboxylase (PCC) - Propinoyl-CoA to Methylmalonyl-CoA in Odd Chain Fatty Acid Metabolism		# Propinoyl-CoA Carboxylase (PCC) - Propinoyl-CoA to Methylmalonyl-CoA in Odd Chain Fatty Acid Metabolism
	# Methylcrotonyl CoA Carboxylase (MCC) - 3-Methylcrotonyl CoA to 3-Methylglutaconyl CoA in Leucine Metabolism		# Methylcrotonyl CoA Carboxylase (MCC) - 3-Methylcrotonyl CoA to 3-Methylglutaconyl CoA in Leucine Metabolism
	* Biotin deficiency ~~is relatively rare. Populations at~~ risk:
			===Biotin deficiency risk factors===
	# Long-term Parenteral Nutrition		# Long-term Parenteral Nutrition
	# Consumption of raw egg whites (bodybuilders or boxers)		# Consumption of raw egg whites (bodybuilders or boxers)
	* Secondary biotin deficiency (Multiple Carboxylase Deficiency) is caused by two inherited defects in metabolism:
			===Secondary biotin deficiency (Multiple Carboxylase Deficiency)===
			is caused by two inherited defects in metabolism:
	# Holocarboxylase Synthetase Deficiency - Autosomal Recessive disorder. Holocarboxylase Synthetase is required to attach biotin to other molecules. Deficiency in this enzyme prevents cells from using Biotin.		# Holocarboxylase Synthetase Deficiency - Autosomal Recessive disorder. Holocarboxylase Synthetase is required to attach biotin to other molecules. Deficiency in this enzyme prevents cells from using Biotin.
	# Biotinidase Deficiency - Biotinidase is required to release Biotin that is bounded to protein.		# Biotinidase Deficiency - Biotinidase is required to release Biotin that is bounded to protein.

Mholtz at 02:11, 15 September 2017

2017-09-15T02:11:40Z

← Revisión anterior		Revisión del 02:11 15 sep 2017
Línea 4:		Línea 4:
	* Intestinal flora synthesizes significant quantities of biotin.		* Intestinal flora synthesizes significant quantities of biotin.
	* Biotin is recycled in the body and eventually lost in urine and feces.		* Biotin is recycled in the body and eventually lost in urine and feces.

	* Biotin (Vitamin B7) is a cofactor in four major carboxylation reactions		* Biotin (Vitamin B7) is a cofactor in four major carboxylation reactions
	# Acetyl-CoA Carboxylase (ACC) - Acetyl-CoA to Malonyl-CoA in Fatty Acid Synthesis		# Acetyl-CoA Carboxylase (ACC) - Acetyl-CoA to Malonyl-CoA in Fatty Acid Synthesis
Línea 16:		Línea 15:
	# Holocarboxylase Synthetase Deficiency - Autosomal Recessive disorder. Holocarboxylase Synthetase is required to attach biotin to other molecules. Deficiency in this enzyme prevents cells from using Biotin.		# Holocarboxylase Synthetase Deficiency - Autosomal Recessive disorder. Holocarboxylase Synthetase is required to attach biotin to other molecules. Deficiency in this enzyme prevents cells from using Biotin.
	# Biotinidase Deficiency - Biotinidase is required to release Biotin that is bounded to protein.		# Biotinidase Deficiency - Biotinidase is required to release Biotin that is bounded to protein.

	==Clinical Features==		==Clinical Features==
	* Classical Presentation:		* Classical Presentation:
Línea 22:		Línea 22:
	** Enteritis		** Enteritis
	** Neurological - including AMS, lethargy, hallucinations, paresthesias		** Neurological - including AMS, lethargy, hallucinations, paresthesias

	* Holocarboxylase Synthetase Deficiency - presents in the first week of life with:		* Holocarboxylase Synthetase Deficiency - presents in the first week of life with:
	** lethargy		** lethargy
	** hypotonia		** hypotonia
	** vomiting		** vomiting

	* Biotinidase Deficiency - presents later in life with:		* Biotinidase Deficiency - presents later in life with:
	** dermatitis		** dermatitis
Línea 34:		Línea 32:

	==Differential Diagnosis==		==Differential Diagnosis==

	* DDx involves genetic disorders with impaired carboxylation.		* DDx involves genetic disorders with impaired carboxylation.
	** Biotinidase Deficiency (see above)		** Biotinidase Deficiency (see above)
Línea 42:		Línea 39:
	** Propionic Acidemia		** Propionic Acidemia
	** Pyruvate Carboxylase Deficiency		** Pyruvate Carboxylase Deficiency

	* Starvation		* Starvation
	* Medication Use - Antibiotics or Anti-convulsants		* Medication Use - Antibiotics or Anti-convulsants
			* Other vitamin deficiencies:

	* Other vitamin deficiencies:
	===[[Vitamin deficiencies]]===		===[[Vitamin deficiencies]]===
	*[[Vitamin A deficiency]]		*[[Vitamin A deficiency]]
Línea 63:		Línea 59:
	==Evaluation==		==Evaluation==
	* Diagnosis is primarily clinical. Routine serum chemistry panel should be checked.		* Diagnosis is primarily clinical. Routine serum chemistry panel should be checked.

	* Other Laboratory Studies		* Other Laboratory Studies
	** Newborn Screening		** Newborn Screening
Línea 70:		Línea 65:
	** Plasma Carnitine		** Plasma Carnitine
	** Quantitative Amino Acid levels		** Quantitative Amino Acid levels

	** Urine B-Hydroxyisoverlate decreased		** Urine B-Hydroxyisoverlate decreased
	** Urine Biotin decreased		** Urine Biotin decreased
Línea 82:		Línea 76:
	* Stop consumption of raw eggs.		* Stop consumption of raw eggs.
	* Stop anti-convulsant or anti-biotic use.		* Stop anti-convulsant or anti-biotic use.

	==Disposition==		==Disposition==
	* Follow-up with primary care provider or referral to genetic specialist.		* Follow-up with primary care provider or referral to genetic specialist.

	==See Also==		==See Also==


	==External Links==		==External Links==


	==References==		==References==
	~~Institute of Medicine. Dietary Reference Intakes for Thiamin, Riboflavin, Niacin, Vitamin B6, Folate, Vitamin B12, Pantothenic Acid, Biotin, and Choline, 1998.~~
	~~Mock D. Biotin. In: Modern Nutrition in Health and Disease, 9th, Shils M (Ed), Lippincott Williams and Wilkins, Philadelphia 2000. p.459.~~
	<references/>		<references/>

			[[Category:FEN]]

Jliou: Summary of Biotin deficiency

2017-09-11T19:37:33Z

Summary of Biotin deficiency

Página nueva

==Background==
* Almost all food contain significant quantities of biotin, but it is most found in plants, liver, egg yolk, soybean products, and yeast.
* Daily biotin requirement is low (150-300 ug/d).
* Intestinal flora synthesizes significant quantities of biotin.
* Biotin is recycled in the body and eventually lost in urine and feces.

* Biotin (Vitamin B7) is a cofactor in four major carboxylation reactions
# Acetyl-CoA Carboxylase (ACC) - Acetyl-CoA to Malonyl-CoA in Fatty Acid Synthesis
# Pyruvate Carboxylase (PC) - Pyruvate to Oxaloacetate in Gluconeogenesis
# Propinoyl-CoA Carboxylase (PCC) - Propinoyl-CoA to Methylmalonyl-CoA in Odd Chain Fatty Acid Metabolism
# Methylcrotonyl CoA Carboxylase (MCC) - 3-Methylcrotonyl CoA to 3-Methylglutaconyl CoA in Leucine Metabolism
* Biotin deficiency is relatively rare. Populations at risk:
# Long-term Parenteral Nutrition
# Consumption of raw egg whites (bodybuilders or boxers)
* Secondary biotin deficiency (Multiple Carboxylase Deficiency) is caused by two inherited defects in metabolism:
# Holocarboxylase Synthetase Deficiency - Autosomal Recessive disorder. Holocarboxylase Synthetase is required to attach biotin to other molecules. Deficiency in this enzyme prevents cells from using Biotin.
# Biotinidase Deficiency - Biotinidase is required to release Biotin that is bounded to protein.
==Clinical Features==
* Classical Presentation:
** Dermatitis - specifically around eyes, nose, mouth
** Alopecia
** Enteritis
** Neurological - including AMS, lethargy, hallucinations, paresthesias

* Holocarboxylase Synthetase Deficiency - presents in the first week of life with:
** lethargy
** hypotonia
** vomiting

* Biotinidase Deficiency - presents later in life with:
** dermatitis
** neurological symptoms - ataxia, seizures, myoclonus, nystagmus
** ketoacidosis

==Differential Diagnosis==

* DDx involves genetic disorders with impaired carboxylation.
** Biotinidase Deficiency (see above)
** Holocarboxylase Synthetase Deficiency (see above)
** Carnitine Deficiency
** Methylmalonic Acidemia
** Propionic Acidemia
** Pyruvate Carboxylase Deficiency

* Starvation
* Medication Use - Antibiotics or Anti-convulsants

* Other vitamin deficiencies:
===[[Vitamin deficiencies]]===
*[[Vitamin A deficiency]]
*Vitamin B deficiencies
**[[Vitamin B1 deficiency]] (Thiamine)
***[[Beriberi]]
***[[Wernicke-Korsakoff syndrome]]
**[[Vitamin B3 deficiency]] ([[Pellagra]])
**[[Vitamin B9 deficiency]] (Folate)
**[[Vitamin B12 deficiency]]
*Vitamin C deficiency ([[Scurvy]])
*Vitamin D deficiency ([[Rickets]])
*[[Vitamin E deficiency]]
*[[Vitamin K deficiency]]

==Evaluation==
* Diagnosis is primarily clinical. Routine serum chemistry panel should be checked.

* Other Laboratory Studies
** Newborn Screening
** Serum Biotinidase Activity decreased
** Serum Ammonia Levels increased
** Plasma Carnitine
** Quantitative Amino Acid levels

** Urine B-Hydroxyisoverlate decreased
** Urine Biotin decreased
** Urine Ketones increased

==Management==
* Supplementation of Biotin. Dosage is debated:
** 150 ug intramuscular injection suggested
** 5-20 mg/dl have also been used

* Stop consumption of raw eggs.
* Stop anti-convulsant or anti-biotic use.
==Disposition==
* Follow-up with primary care provider or referral to genetic specialist.
==See Also==

==External Links==

==References==
Institute of Medicine. Dietary Reference Intakes for Thiamin, Riboflavin, Niacin, Vitamin B6, Folate, Vitamin B12, Pantothenic Acid, Biotin, and Choline, 1998.
Mock D. Biotin. In: Modern Nutrition in Health and Disease, 9th, Shils M (Ed), Lippincott Williams and Wilkins, Philadelphia 2000. p.459.
<references/>