Packets for Parents

Other Sites of Reference for Biotinidase Deficiency

Biotinidase Deficiency - A Booklet for Families and Professionals

MoSt GeNe - NBS Program

Iowa DOH - Biotinidase Deficiency Definition 

National Institute of Health - Biotinidase Deficiency Definition

Nebraska DOH - Biotinidase Deficiency Definition: What is it?

NORD - Multiple Carboxylase Deficiency (Biotinidase Deficiency)

Normalisation of severe cranial CT scan abnormalities after biotin 
in a case of biotinidase deficiency

OMIM (Online Mendelian Inheritance in ManTM) - Biotinidase Deficiency Definition

Portuguese Biotinidase Deficiency Site - hosted by Flavia Viotti R. Siqueira

Tennessee DOH NBS Program & Biotinidase Deficiency Insert

Virginia DOH - Biotinidase Deficiency Definition

Washington DOH -  What should I know about Biotinidase Deficiency

Wisconsin DOH - Health Professional's Guide to Biotinidase Deficiency

30 States Screen for Biotinidase Deficiency

NWR ~ Northwest Regional NBS Program
MSGN ~ Mountain States Genetics Network
NE ~ New England NBS Program

NNSGRC - U.S. National Screening Status Report - For more screening information.

Other Sites of Reference for Newborn Screening

Save Babies Through Screening Foundation, Inc.

Save Babies Through Screening: PACKETS FOR PARENTS PROGRAM 
With the generous support from Pediatrix Screening, Save Babies Through Screening is now able to supply a limited number of screening packets each month to needy families. These packets and the lab testing is completely free to the families who receive them.

National Newborn Screening and Genetics Resource Center

March of Dimes

Other Sites of Reference for Support for Connecting and Coping

Family Village Same Diagnosis Message Board  

MUMS - National Parent-to-Parent Network

Organic Acidemia Association

Other Sites of Reference for Medical Information on Biotinidase Deficiency

Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene.

Mutation (Q456H) is the most common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States.

Mutation in a putative glycosylation site (N489T) of biotinidase in the only known Japanese child with biotinidase deficiency.

Arg538 to Cys mutation in a CpG dinucleotide of the human biotinidase gene is the second most common cause of profound biotinidase deficiency in symptomatic children.

Galactose-1-Phosphate Uridyl Transferase Mutation Analysis Database

ARUP Online Scientific Resource: Galt 

Springer Link - Search Engine for Scientific Papers.